M.Sc.

Human Genomics Syllabus

M.Sc. in Human Genomics, 2022-23

Following is the syllabus for two years M.Sc. (Human Genomics) course work.
Each theory paper will have four units. Each unit will comprise of tentatively fifteen lectures.

First Semester:
MHG 101: Biochemistry and cell Biology
MHG 102: Molecular Biology
MHG 103: Genetics
MHG 104: Analytical Techniques
MHG 105: Practicals based on 101 & 102
MHG 106: Practicals based on 103 & 104

Second Semester:
MHG 201: Structure Biology and Bioinformatics-I
MHG 202: Immunology
MHG 203: Human Molecular Genetics-I
MHG 204: Genetic Engineering -Tools and Techniques
MHG 205: Practicals based on 201 & 202
MHG 206: Practicals based on 203 & 204

Third Semester:
MHG 301: Structure Biology and Bioinformatics-II
MHG 302: Gene Expression and Epigenetics
MHG 303: Human Molecular Genetics-II
MHG 304: Genomics and Proteomics
MHG 305: Practicals based on 301 & 302
MHG 306: Practicals based on 303 & 304

Fourth Semester:

MHG 401: Project Work and Presentation

MHG 402: Clinical Round & Viva
MHG 403: Educational Tour & Journal Club

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M.Sc. Human Genomics Syllabus

Scheme of Examination:

First Semester: Final Exam Internal Assessment Total Credits

MHG 101: Biochemistry and Cell Biology 80 20 4
MHG 102: Molecular Biology 80 20 4
MHG 103: Genetics 80 20 4
MHG 104: Analytical Techniques 80 20 4
MHG 105: Practicals based on 101 & 102 80 20 4
MHG 106: Practicals based on 103 & 104 80 20 4
Total 480 120 24

Second Semester:
MHG 201: Structure Biology and Bioinformatics-I 80 20 4
MHG 202 : Immunology 80 20 4
MHG 203: Human Molecular Genetics-I 80 20 4
MHG 204: Genetic Engineering- 80 20 4
Tools & Techniques
MHG 205: Practicals based on 201 & 202 80 20 4
MHG 206: Practicals based on 203 & 204 80 20 4
Total 480 120 24

Third Semester:
MHG 301: Structure Biology and Bioinformatics-II 80 20 4
MHG 302: Gene Expression and Epigenetics 80 20 4
MHG 303: Human Molecular Genetics-II 80 20 4
MHG 304: Genomics and Proteomics 80 20 4
MHG 305: Practicals based on 301 & 302 80 20 4
MHG 306: Practicals based on 303 & 304 80 20 4
Total 480 120 24

Fourth Semester:

MHG 401: Project Work and Presentation 350 14

MHG 402: Clinical Round & Viva 100 4
MHG 403: Educational Tour & Journal Club 150 6

Total 600 24

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M.Sc. Human Genomics Syllabus

Instructions to the Paper Setters:

Set nine questions in all. Q. No. 1 will comprise of short answer type questions covering the
entire syllabus. There must be two questions from each unit and one has to be attempted. All
questions carry equal marks.

Instructions to the candidates:

 Attempt total five questions.

 Question No.1 is compulsory.

 Attempt one question from each Unit.

 All questions carry equal marks.

Marks Distribution:

Each paper is of 100 marks, comprising of final examination (80 marks; 3hr duration) and
Internal Assessment Test (20 marks; 1hr duration)

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M.Sc. Human Genomics Syllabus

SEMESTER I

Paper I (MHG 101) Biochemistry and Cell Biology

Objective of the paper: To build upon the knowledge of biological membranes, bioenergetics,
cell signaling and enzyme biochemistry

Unit-I Biological Membranes and Transport

Evolution of membrane, composition of membranes, micelles, liposomes and lipid bilayers,
structure of biological membrane, membrane fluidity and its regulation; structural and functional
asymmetry of membrane; Membrane bound proteins - structure, properties and function;
membrane channels, and pores, membrane transport proteins, electrochemical potential driven
transports, Active transport, pore forming toxins and ionophores

Unit-II Principles of Bioenergetics

Origin of thermodynamics, First law of thermodynamics, entropy and second law of
thermodynamics, free energy, standard free energy, non standard free energy change, near
equilibrium and metabolically irreversible reactions, ATP, energy coupling concept of metabolic
pathways; thermodynamics of phosphate compounds; oxidation-reduction reactions; integration
of metabolic pathways

Unit-III Cell Communication and Signaling

Cell communication, Intracellular receptor l and cell surface receptors and adhesion molecules,
Signaling via G-protein linked receptors (PKA, PKC, CaM kinase), Enzyme linked receptor
signaling pathways, Network and cross-talk between different signal mechanisms, Programmed
& Non programmed Cell Death

Unit-IV Enzyme Kinetics

Enzyme catalysis – general principles of catalysis; quantitation of enzyme activity and
efficiency; enzyme characterization and Michaelis-Menten kinetics; relevance of enzymes in
metabolic regulation, activation, inhibition and covalent modification; single substrate enzymes;
concept of catalytic antibodies; catalytic strategies with specific examples of proteases, carbonic
anhydrases, and nucleoside monophosphate kinase; Allosteric regulatory strategies with specific
example of hemoglobin; isozymes; role of covalent modification in enzymatic activity;
zymogens

Recommended Books
Berg, Jeremy M; 2012; 7th ed, Biochemistry; W.H.Freeman
Nelson, David L, 7th ed; Principles of Biochemistry, W.H. Freeman
Alberts, Bruce., 2014, Essential cell biology 4th edition, GS
Voet, Donald., 2014, Principles of biochemistry 4th edition, Wiley
Hancock, John T., 2010, Cell signaling 3rd edition, Oxford

Suggested Reading
1. Buehler, Lukas K., 2016, Cell membranes, GS
2.Cox, Michael M; 2012, Molecular Biology, W.H.Freeman.
3. Lodish, Harvey., 2013, Molecular cell biology 7th edition, Macmillan
4. Alberts, Bruce., 2008, Molecular biology of the cell 5th edition, GS
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M.Sc. Human Genomics Syllabus

Paper II (MHG 102) Molecular Biology

Objective of the paper: To make the students understand the mechanism of replication,
transcription, protein synthesis and regulation of gene expression
Unit-I DNA replication and Repair
DNA replication mechanism, Replication initiation, elongation and termination in prokaryotes &
eukaryotes, enzymes and accessoryproteins involved in DNA replication, Fidelity; end
replication problem and telomerase; overview of cellular control of replication in eukaryotes;
DNA repair- photoreactivation, nucleotide and base excision repair, mismatch repair, SOS
response, recombination repair, NHEJ, gene amplification, mobile genetic elements, replication
of mitochondrial genome
Unit-II Transcription
Prokaryotic transcription; transcription unit, promoters: constitutive and inducible, initiation,
termination- rho dependent and independent. Eukaryotic transcription, promoters for RNA
polymerase I, II and III, transcription factors, regulatory elements & mechanism of transcription
regulation, post-transcriptional modifications: processing of hnRNA, rRNA & tRNA; 5’cap
formation, 3’-end processing, polyadenylation and splicing, mRNA transport, localization and
half life, RNA editing, ribozyme technology
Unit-III Translation
Genetic code: deciphering of genetic code, prokaryotic & eukaryotic translation, the translation
machinery, isoaccepting tRNA, wobble hypothesis, mechanism of initiation, elongation &
termination, ribosome recycling factor, tm RNA, co & post translation modification of proteins
and intracellular protein targeting, import into nucleus, mitochondria and peroxisome, non-
ribosomal peptide synthesis
Unit-IV Regulation of gene expression in prokaryotes
Principles of transcriptional regulation, regulation of transcription initiation: examples from
prokaryotes (operon concept; positive and negatice control of lac operon, ara operon), control of
tryptophan operon by attenuation, layers of regulation in bacteriophage λ, regulation by RNAs
in bacteria (sRNA and riboswitches)
Recommended Books
1. Watson J, Baker T, Bell S, Gann A, Levine M and Loscik R (2014) Molecular Biology of the
Gene. 7th Ed. Pearson Education
2 Krebs J.E., Goldstein E.S. and Kilpatrick ST (2017) Lewin’s GENES XII, Jones and Bartlett
Publishers, U.K.
3. Clark DP, Pazdernik NK, McGehee MR (2019) Molecular Biology, Academic Press

Suggested Reading
1. Cooper GM (2018) The cell A Molecular Approach, Oxford University Press.
2. Pal S (2019) Fundamentals of Molecular Structural Biology, Academic Press.
3. Lodish H, Berk A, Kaiser CA, Krieger M et al. (2021) Molecular Cell Biology, 9th ed.,
W. H. Freeman and Co., New York.
4. Berg JM, Tymoczko J, Gatto GJ, Stryer L (2019) Biochemistry, W. H. Freeman.
5. Nelson, D. L. & Cox, M. M. (2021) Lehninger Principles of Biochemistry, 8 th ed.,
W H Freeman & Co.
6. Voet D, Voet JG, Pratt CW (2016) Fundamentals of Biochemistry: Life at the Molecular
Level, John Wiley and sons, Inc.

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M.Sc. Human Genomics Syllabus

Paper III (MHG 103) Genetics

Objective of the paper: Students learn the basic concepts of genetics along with its significance
and application at population level as well at clinics. The last segment on statistical methods
helps student to understand the significance of various study designs.
Unit-I Classical Genetics: Experiments & Applications of Mendel’s principles, Rediscovery &
Extension of Medelian genetics; Chromosomal theory of inheritance, Extranuclear inheritance;
Pedigree convention & Analysis in Humans Inheritance Patterns, Complications to basic patterns
of inheritance (Pseudo-dominance, Late-onset, Anticipation, Male lethality, Mosaicism,
Chimerism); X-linkage in drosophila, humans & sex linked traits; Linkage & Recombination,
Chromosome mapping, Crossing over as measure of genetic distance, Cytogenetic mapping,
Genetic distance & physical distance, Significance of recombination in Evolution; Significance
of classical genetics in present times and its application.
Unit-II Population & Evolutionary Genetics: Relevance of population genetics; Concepts of
Alleles, Genotypes and haplotype; Hardy Weinberg Equilibrium Principle; Testing for HWE;
Extensions of HW principle; Factors affecting allelic frequency; Natural selection & allele
frequency; Dynamics of genes in population; genetic admixture; Population in genetic
equilibrium (Balancing selection; Mutation-selection balance; Mutation-drift balance);
Evolutionary theory; Genetic variations in natural populations, Genetics of Speciation;
Epidemiology (Concept and Methodology).
Unit-III Clinical Genetics: Congenital abnormalities & dysmorphic syndromes with their
causes, Chromosomal disorders, Single gene defects (Noonan Syndrome, Soto syndrome), Single
gene disorders (HD, CF, DMD, Hemophilia, etc), Non-syndromal malformations with
multifactorial inheritance (Neural tube defect, cleft lip/palate), Environment induced (Bhopal gas
tragedy, fetal alcohol syndrome), Maternal infections (with Rubella, etc..), maternal illness (with
DM, Epilepsy), Malformations of unknown cause; Screening for genetic diseases (High risk,
carrier testing), Cascade testing (Affected & relatives), Neonatal screening, Prenatal testing &
reproductive genetics (Diagnosis, termination of pregnancy, Preimplantation genetic diagnosis,
3-parent IVF); Genetic Registries, Ethical considerations in carrier & predictive testing; Maternal
screening; Newborn screening; Genetic tests (for large & small scale DNA changes); Genetic
counselling.
Unit IV Statistical Tests in Genetic Analysis: Application of laws of probability (product rule,
sum rule. binomial probability); Measures of central tendency: Mean, Median, Mode; Measures
of dispersion: Standard deviation, standard error, Variance, Coefficient of variation; Hypothesis
testing and analysis of Genetic data: Statistical & Scientific hypothesis, The null and alternative
hypothesis, F-tests & Chi square test, Student’s t test, Z test, Q test; General idea of Correlation
and Regression Analysis; ANOVA: General idea of one way & two way analysis.
Recommended Books
1. Snustad & Simmons, Principles of Genetics , John Wiley & Sons, Inc (latest edition)
2. Turnpenny and Ellard, Emery’s Elements of Medical Genetics, Elsevier (latest edition)
3. Merrill RM, Fundamentals of epidemiology and biostatistics, Jones & Bartlett Learning (2012)

Suggested Reading
1. Oliveira, Biostatistics decoded, Wiley & sons (2013)
2. Merrill, Statistical Methods in epidemiologic Research, Jones & Bartlett Learning (latest
edition)
3. King, Cummings, Spencer, Concept of Genetics, Pearsons (latest edition)
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M.Sc. Human Genomics Syllabus

Paper IV (MHG 104) Analytical Techniques

Objective of the paper: To make students understand the basics of various analytical techniques
used in almost all fields of biology, so they can practice this in future with confidence.

Unit-I Chromatographic and Electrophoretic Techniques

Chromatographic methods for macromolecule separation –theoretical basis of chromatography,
partition coefficient; Gel permeation chromatography, Ion exchange chromatography,
Hydrophobic interaction chromatography, Reverse-phase chromatography, HPLC and Affinity
chromatography, Gas-liquid chromatography, Isoelectric focusing. Theory of Polyacrylamide
and Agarose gel electrophoresis: PAGE (Native and SDS).

Unit-II Spectroscopy
Fundamental aspects of spectroscopy: electronic transitions, vibrational and rotational
transitions; Theory and application of UV and Visible Spectroscopy: beer lamberts law,
chromophores, intrinsic and extrinsic, absorption spectroscopy of proteins and nucleic acids
difference spectroscopy, solvent perturbation effects; Fluorescence: basic principle, distinction
from absorption; intrinsic and extrinsic fluors, applications of fluroscence spectroscopy of
proteins, FRET, Luminescence and chemiluminescence; basic theory of Circular Dichroism; CD
of proteins, Dynamic light scattering,

Unit-III Microscopy and Radioisotopes

Light and phase contrast microscopy, fluorescent microscopy, Electron microscopy (TEM and
SEM), Confocal microscopy, Histochemical and Immuno-histochemical methods, LASER
capture methodology
Isotopes and Radioactivity: Isotopes: Radioactive decay [α,β,γ, and positron], Kinetics of decay,
measurement of radioactivity: units of radioactivity, ionization monitors, liquid scintillation
counting, Cerenkov radiation, autoradiography. Commonly used isotopes in molecular biology:
isotopes of Hydrogen [Tritium and Deutrium], Carbon, Phosphorous, Sulphur and Iodine

Unit IV Centrifugation and Radioisotopes in Biology

Biological macromolecules as hydrodynamic particles: Hydration, Friction and Diffusion.
Equipment used in Centrifugation: Types of centrifuges [table top, microfuge, high-speed
refrigerated and ultracentrifuges], types of rotors[fixed angle, swing out, vertical] uses of
centrifugation: subcellular fractionation, Density gradient centrifugation. Analytical
Centrifugation: Sedimentation velocity analysis and sedimentation equilibrium analysis.

Recommended Books
1. D. Sheehan. 2009. Physical Biochemistry: Principles and Applications (2nd Ed.), John Wiley
and Sons Ltd, Chichester, England.
2. Freifelder, David Physical Biochemistry, W.H. Freeman

Suggested Reading
1.Roe, Simon, 1999, Protein Purification Techniques, Oxford University Press. Spangler,
2.Brends D; 2002. Methods in Molecular Biology and Protein Chemistry, Wliey & Sons.
3..Creighton, Thomas E., 2010, Physical and chemical basis of molecular biology, Helvetian
Press

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M.Sc. Human Genomics Syllabus

SEMESTER II

Paper I (MHG 201) Structural Biology and Bioinformatics – I

Objective of the paper: To make students understand three dimensional structure of nucleic acids
and proteins, methods of macromolecular structure determination as well forces which mediate
intra and inter molecular interactions in biological system

Unit-I Protein Structure and Protein Folding

Physical chemical properties of amino acids, General Principles of protein structure, Backbone
conformation, Hierarchy of protein structure:, peptide bond, secondary structure of proteins,
Ramachandran plot, tertiary structure of proteins; Structural motifs and domains in soluble
proteins, Structural principles of membrane proteins. Protein folding: theories of protein folding,
protein denaturation and renaturation, folding pathways, assisted folding, molecular chaperones.
Intrinscially Unstructured Proteins.

Unit II Structure of Nucleic Acids and glycans

Configuration and conformation of monomer constituents, structural hierarchy of DNA, double
helix; features and characteristics, A, B, Z DNA; DNA as a polyelectrolyte, DNA flexibility and
dynamics, DNA topology. RNA classification & structures, secondary structure of RNA
(hairpins, tetra loops, bulges), RNA folds, and structural motifs (pseudoknots, A-minor, ribose
zipper, etc,), role of metal ions, tertiary structure of RNA.
Introduction to glycans, structural isomers, polymeric glycan structures [glycogen, cellulose],
glycan modification of proteins

Unit-III Molecular Interactions and Recognition

Thermodynamics of molecular interactions: concept of Affinity, dissociation constant,
experimental methods for determination of Kd. Binding isotherms, Scatchard Analysis. Drug
Binding by proteins: drugs as inhibitors, induced conformational changes, role of non covalent
interactions, enthalpy and entropy effects in drug binding. Isothermal Titration Calorimetery
[ITC] as a tool. Molecular recognition: role of affinity and specificity, Protein-Protein
interactions: Types of interactions involved in protein-protein interactions. Recognition of
nucleic acids by proteins: role of hydrogen bonds, electrostatic interactions, stacking interactions
in nucleic acid–protein interactions, conformational changes.

Unit-IV Introduction to Bioinformatics

Data acquisition from experimental methods. Biological databases: Primary and derived
databases. Sequence database [nucleic acid and protein sequence databases] Genbank, EMBL,
RefSeq, UniProtKB, RCSB. Notion of Homology: Ortholgoues, Paralogues, Analogues.
Understanding sequence identity and similarity with reference to evolutionary relationship.
Pairwise sequence alignment: Dotplot, advantages and disadvantages. Concept of Global and
Local alignment, Scoring functions, Statistical significance of alginments, PAM and BLOSUM
matrices.

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M.Sc. Human Genomics Syllabus

Recommended Books
1.Nelson, David L.Lehninger Principles of Biochemistry[Seventh edition], Macmillan
2.Kuriyan, John ; 2013, Molecules of life, Garland Science
3.Berg, Jeremy M.,Biochemistry[Ninth edition], Macmillan
4.Voet, Donald Principles of Biochemistry [Fourth edition], Wiley
5. Pevsner, Jonathan; 2015 [Third edition] Bioinformatics and Functional Genomics; Wiley-
Blackwell

Suggested Reading
1. Creighton, Thomas E; 2011; Physical and Chemical basis of Molecular Biology, Helvetian
Press.
2. Dill, Ken A; 2011, 2nd ed; Molecular Driving Forces ; Garland Science.
3. Cox, Michael M. Phillips, George N., eds; 2007, Handbook of Proteins: Structure, Function
and Methods, Vol-II; Wiley & Sons.
4. Creighton,T E; 2010, Biophysical Properties of Nucleic acids and Proteins, Helvetian Press.

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M.Sc. Human Genomics Syllabus

Paper II (MHG 202) Immunology

Objective of the paper: To learn about the components, function & development of immune
system and mechanisms by which our body elicits immune response.

Unit-I Overview of the immune system

Components of innate and acquired immunity; Physical and physiological barriers, phagocytosis;
complement and inflammatory responses; Cells and Organs of immune system, primary and
secondary lymphoid organs, antigens: immunogens, haptens; Major Histocompatibility
Complex: MHC genes, antigen processing and presentation- endogenous antigens, exogenous
antigens MHC and immune responsiveness and disease susceptibility, cytokines: properties,
receptors and therapeutic uses; Hapten-carrier system, non-peptide bacterial antigens and super-
antigens; cell-cell co-operation .

Unit-II Immune response

Immunoglobulins - basic structure, classes & subclasses of immunoglobulins, antigenic
determinants; multigene organization of immunoglobulin genes; B-cell receptor;
Immunoglobulin superfamily; kinetics of immune response, memory; B cell maturation,
activation and differentiation; generation of antibody diversity; T-cell maturation, activation and
differentiation and T-cell receptors; functional T Cell subsets; cell-mediated immune responses,
ADCC,

Unit-III Clinical immunology and Vaccines

Hypersensitivity: Type I-IV; tolerance; autoimmunity: types of autoimmune diseases; treatment
of autoimmune diseases; transplantation: immunological basis of graft rejection; clinical
transplantation and immunosuppressive therapy; immunodeficiency: primary Formatted: Font: 12 pt
immunodeficiencies, acquired or secondary immunodeficiencies, flow cytometry
Active and passive immunization; live, killed, attenuated, subunit vaccines; vaccine technology:
role and properties of adjuvants, recombinant DNA and protein based vaccines, plant-based
vaccines, reverse vaccinology; peptide vaccines, conjugate vaccines; antibody genes and
antibody engineering: chimeric, generation of monoclonal antibodies, hybrid monoclonal
antibodies; catalytic antibodies and generation of immunoglobulin gene libraries, idiotypic
vaccines and marker vaccines, viral-like particles (VLPs), dendritic cell based vaccines, T cell
based vaccine, edible vaccine and therapeutic vaccine.

Unit-IV Immunogenetics
Major histocompatibility complex genes and their role in autoimmune and infectious diseases,
HLA typing, human major histocompatibility complex (MHC), genetic studies of rheumatoid
arthritis, systemic lupus erythematosus and multiple sclerosis, immunogenetics of spontaneous
control of HIV, KIR complex.
Disease models: SCID mouse, NOD mouse, SLE model.
Cellular therapy; Stem cells: definition, properties and potency of stem cells; Sources: embryonic
and adult stem cells; Concept of tissue engineering; histotypic and organotypic culture for tissue
engineering

Recommended Books
1. Punt J, Stranford S, Jones P, Owen J (2019) Kuby Immunology. New York: W.H. Freeman.
2. Delves PJ, Martin SJ, Burton DR, Roitt IM (2017) Essential Immunology, 13th Ed., Wiley-
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M.Sc. Human Genomics Syllabus

Blackwell.
3. Abbas A, Lichtman A, Pillai S (2019). Basic Immunology: Functions and Disorders of the
Immune System, 6th Ed. Elsevier Inc.

Suggested Reading
1. Coico R, Sunshine, G (2015) Immunology: A Short Course, 7th Ed., Wiley-Blackwell.
2. Paul WE (2012) Fundamental Immunology. New York: Raven Press
2. Murphy K, Weaver C (2016) Janeway’s Immunobiology. 9th Ed. New York: W.W. Norton &
Company

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M.Sc. Human Genomics Syllabus

Paper III (MHG 203): Human Molecular Genetics-I

Objective of the paper: Students learn the basic idea to design & complete Human Genome
project and to know how the human genes and other DNA sequences are organized in the
genome with respect to their functionality. How various types of variation get originated and
spread in population, some leading to pathologies.

Unit-I HGP & Organization of Human Genome: Goals of human genome project; Initiation
and progression; Methodologies & Outcomes of HGP in comparison with contemporary
technologies-4. General organization of Nuclear & Mitochondrial genome-1; Organization &
function of RNA genes (rRNA, tRNA, mRNA, snRNA, snoRNA, scaRNA, miRNA, piRNAs,
siRNA, long regulatory RNAs), Concept of gene in post genome era, RNA interference as cell
defense mechanism-4, Organization & function of polypeptide encoding genes-2; Pseudogenes
and other non-functional copies & their role-1; Highly repetitive DNA sequences:
Heterochromatin and transposon repeats (Tandemly repeated Satellite DNA classes,
Retroposons, Interspersed Nuclear elements (LINEs, SINEs)

Unit- II Human Genome Evolution & complexity: Genetic mechanisms (Replication slippage,
Homologous and non-homologous recombinations {NAHRs} & diversity, Reciprocal & Non-
reciprocal exchanges {Gene conversions}& Holiday Junctions, Retrotransposition), Significance
of gene duplications (Exon duplications & Exon Shuffling); Gene dosage & Functional
complexity, Charcot- Marie- Tooth disease example for segmental duplication & it’s impact;
Divergence in gene regulation (evolution of Globin superfamily); Evolutionary significance of
major chromosomal rearrangements; Evolution of PARs and Human sex chromosomes;
Shortening of Y chromosome, Evolutionary insights into simple genetic diseases (Sickel cell
anemia, Thalassemia,G6PD)

Unit-III Human Genome Variation and Molecular Pathology: Genetic Variations (small
scale to large scale); Difference between Mutation, Variation & Polymorphisms at nucleotide
level, Origin of variation/mutations (Induced; spontaneous and recombinations); Pathogenic
potential of repeat sequences, Copy number variations (CNVs), Pathogenic STRs, dynamic
mutations; Variants leading to dose sensitivity (single, contiguous, segmental); Pathogenic
potential of variants and their effects (LoF, GoF & interaction with regulatory signals,
Haploinsufficiency, Dominant -negative effects, splice site variants, variations affecting gene
expression); Genotype- phenotype correlations (compound heteros, modifiers), Examples from
genetic diseases like Gaucher disease etc; Mitochondrial mutations & pathologies.

Unit-IV Genetic Treatment Strategies & Ethical Consideration: Risk calculations,

Conventional approaches to treatment, Treating with small molecule drugs & therapeutic
applications proteins (RDT), Principles of gene & cell therapy, RNA modifications, Targeted
gene corrections, Stem cell therapy, Gene therapy for inherited disorders & infectious diseases,
Practices & future goals; Genetic considerations: Consent issues; Sharing of genetic information
& limit of confidentiality; Restrictions as result of gene patenting; Genetic discrimination &
eugenics; Ethics of working on human samples & genetic manipulation; ethical, legal & societal
issues (in human biomedical research).

Recommended Books
1. Jobling et al, Human Evolutionary Genetics, Garland Sciences, (latest edition)
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M.Sc. Human Genomics Syllabus

2. Strachan and Read, Human Molecular Genetics, Garland Sciences, (latest edition)

Suggested Reading
1. Strachan et al, Genetics and Genomics in Medicine, Garland Sciences, (latest edition)
2. Sudbery and Sudbery, Human Molecular Genetics, Pearson, (latest edition)
3. Coleman et al, Molecular pathology: the molecular basis of human diseases, Academic
Press (latest edition)

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M.Sc. Human Genomics Syllabus

Paper IV (MHG 204): Genetic Engineering-Tools and Techniques

Objective of the paper: To make the students learn various approaches for genetic engineering
and their applications in biological research/genome editing.

Unit-I Molecular cloning I

General requirements for performing a genetic engineering experiment; restriction endonucleases
and methylases; DNA ligase, Klenow enzyme, T4 DNA polymerase, polynucleotide kinase,
alkaline phosphatase; cohesive and blunt end ligation; linkers; adaptors; homopolymeric tailing;
labelling of DNA: nick translation, random priming, radioactive and non-radioactive probes
(digoxigenin and biotin), hybridization techniques: Northern, Southern, South-Western and far-
Western and colony hybridization
Common cloning vectors (Plasmids, Bacteriophages, Phagemids, Lambda, Cosmid vectors;
YACs; BACs); animal virus derived vectors: pCMV and SV40; Bacculo virus and retroviral
vectors; Yeast and Pichia vectors.

Unit-II Molecular Cloning II

Construction of cDNA and genomic libraries; Various methods of DNA transfer into host cells;
Methods of selection and screening; Jumping and hopping libraries.
Expression vectors: principle of recombinant protein expression as His- and GST-tags by cloning
in pET and pGEX; Expression strategies for heterologous genes: codon optimization, Hosts:
expression in bacteria and yeast, Inclusion bodies; Methodologies to reduce formation of
inclusion bodies, in vitro transcription & in vitro translation, intein based vectors, Biosafety
measures and regulation of recombinant DNA

Unit-III PCR and its Applications

Primer design; Fidelity of thermostable enzymes; DNA polymerases; Different steps of PCR;
Types of PCR (multiplex, nested, reverse transcriptase, Real time PCR, Touchdown PCR, hot
start PCR, colony PCR); cloning of PCR products; error-prone PCR for directed evolution, PCR
in molecular diagnostics; PCR based mutagenesis; T-vectors; Proof reading enzymes; Site
specific mutagenesis; mutation detection: SSCP, DGGE, RFLP

Unit-IV Gene silencing and genome editing technologies

Gene silencing techniques; introduction to siRNA; siRNA technology; Micro RNA; construction
of siRNA vectors; principle and application of gene silencing; gene knockouts and gene therapy;
introduction to methods of genetic manipulation in different model systems e.g. fruit flies
(Drosophila), worms (C. elegans), frogs (Xenopus), fish (zebra fish) and chick; Transgenics -
gene replacement; gene targeting; creation of transgenic and knock-out mice; disease model;
genome editing by CRISPR-CAS with specific emphasis on clinical trials and promise of the
technology as a next generation therapeutic method
Safety considerations and Impact of genetic engineering in modern society

Recommended Books/References

1. Green MR, Sambrook J (2012) Molecular Cloning: A Laboratory Manual, Vols 1-3, CSHL.
2. Glick B R, Pasternak JJ, Patten CL (2009) Molecular Biotechnology: Principles and
Applications of Recombinant DNA. ASM Press.
3. Brown TA (2016) Gene Cloning and DNA Analysis: An Introduction. Wiley-Blackwell.
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M.Sc. Human Genomics Syllabus

4. Selected articles from scientific journals

Suggested Reading

1. Watson JD, Myers RM, Caudy AA, Witkowski AA, 3rd edition, Recombinant DNA: Genes
and Genomics – a short course, W. H. Freeman and CSHL Press.
2. Cech TR, Steitz JA, Atkins JF (2019) RNA Worlds: New Tools for Deep Exploration. CSHL
press.
3. Howe C, 2nd edition, Gene Cloning and Manipulation, Cambridge University Press.

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M.Sc. Human Genomics Syllabus

SEMESTER III

Paper I (MHG 301) Structure Biology and Bioinformatics-II

Objective of the paper: To make students familiar with rapidly evolving domain of
Bioinformatics, dealing with introduction of databases, basic concepts in similarity search
approaches, multiple sequence alignments, molecular phylogenetics, protein structure prediction
and Structural Bioinformatics and drug discovery.

Unit-I Macromolecular Structure Determination methods

Protein X-ray crystallography [basic idea about crystal lattice, protein crystallization methods
diffraction principles, , diffraction data collection, refinement]. NMR spectroscopy: Principles of
NMR, Distance and angles from frequencies, chemical shift, J-J coupling, NOESY and COESY.
Experimental techniques [1D, 2D, multi-dimensional NMR], investigating structure and
dynamics by NMR. Cryo-electron microscopy:concept ofcryo-electron microscopy,
vitirification, data collection and single particle image reconstruction. Optical force measuring
methods: Optical Tweezers, Magnetic tweezers.

Unit-II Similarity Searches and Phylogenetics

BLAST: Concept and introduction of BLAST programs: nucleotide BLAST, protein BLAST,
blastx, tblastn, PSI, and PHI BLAST, BLAT and Mega BLAST for genome sequences. Profile-
profile searches, Hidden Markov Models. Multiple sequence alignment:Main approaches: exact
approaches, progressive sequence alignment, iterative approaches, consistency based approaches,
structure based approaches, introduction to Clustal omega. Molecular Phylogenetics- molecular
clock hypothesis, neutral theory of evolution; concept of phylogenetic tree, types of trees,
elementary idea of clustering method and, cladistic methods.

Unit-III Protein Structure Prediction

Secondary structure prediction, first second, third generation methods; prediction of membrane
helices: topology prediction, solvent accessibility; homology modeling: basis of homology
modeling, steps in modeling, validation of the model; fold recognition methods: limitations of
homology modeling, steps in fold recognition; de novo protein structure prediction. Molecular
Dynamics: General Principles of MD, Energy and time calculations. Classical MD approaches,
examples of MD to address questions in biology.,

Unit-IV Structural Bioinformatics and Drug Discovery.

Structural Genomics in drug discovery: Protein structures as drug targets, drug target discovery
[identification and assessment], principles of druggability, qualitative assessment of druggability,
targeting protein-protein interactions. Use of Docking in drug discovery: Docking and scoring,
virtual screening, binding site prediction and annotation, Fragment based drug discovery, ligand
based perspectives. .

Recommended Books
1. Pevsner, Jonathan; 2015 3rd ed; Bioinformatics and Functional Genomics; Wiley-Blackwell
2.Rhodes, Gale.Crystallography made crystal clear: a guide for users of macromolecular
models[Third edition], Elsevier
3.Gu, Jenny, Structural bioinformatics, Wiley
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M.Sc. Human Genomics Syllabus

4. Zaccai, Nathan R.Methods in Molecular biophysics [Second edition] Cambridge University

Press

Suggested Reading
1.Mount, David. Bioinformatics: Sequence and genome analysis, CSHL Press
2.Westhead, David R. Parish, J. howard Twyman, Richard M.Instant notes in bioinformatics,
Taylor and Francis
3.Xiong, Jin ; Essential Bioinformatics, Cambridge
4.Lesk, Arthur M; 2008, 3rd ed; Introduction to Bioinformatics; Oxford University Press.
5.Tramontano, Anna. Protein structure prediction: concepts and applications, Wiley
6. Drenth, Jan. Principles of protein X-ray crystallography, Springer
7. Creighton, Thomas E. Physical and chemical basis of molecular biology, Helvetian Press

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M.Sc. Human Genomics Syllabus

Paper II (MHG 302) Gene Expression and Epigenetics

Objective of the paper: To make students understand how thousands of genes in a cell express,
coordinate and get regulated to result in a function or phenotype. How fixed number of genes
result in various functions and phenotypes.

Unit-I Regulation of Gene Expression in eukaryotes

cis-acting elements and trans-acting factors: Diversity in core promoter elements Diversity in
general transcription factors Proximal & Distal Promoter Elements, Enhancers and Silencers,
Gene-specific Regulators; role of chromatin in eukaryotic gene regulation: Role of chromatin in
eukaryotic gene regulation Role of histones in eukaryotic gene regulation Role of DNA
methylation in eukaryotic gene regulation, histone code, Chromatin remodeling & gene
regulation; ChIP assay, Position effect Variation; translational regulation, chromatin organization
: 3C, 4C, 5C, HiC; expression analysis by microarrays, SAGE, CAGE

Unit-II Regulation of Gene Expression during Development: Formatted: Font: 12 pt, Bold, Font
color: Auto
Gene Regulation during Drosophila Development, Signal transduction pathways involved in
embryonic development, Homeotic genes, Epigenetic regulation of gene expression during Formatted: Font: 12 pt, Bold, Font
color: Auto
development, Embryonic stem cells and Transcription factor-mediated epigenetic
reprogramming
Unit-III DNA methylation as an epigenetic factor
Host defense and gene regulatory models; DNA Methylation during early development
(epigenetic reprogramming), Non-equivalence of paternal and maternal genome (Hypothesis,
experimental validations); Monoallelic Expression (Genomic imprinting & differential
expression; X-chromosome inactivation & mechanism); DNA methylation mechanism &
patterns including CpG Islands, Effects on transcription, DNA methyltransferases activity,
Methylation regulation at specific gene; Significance of IHEC and ENCODE project;
Technologies to measure 5mC & 5hmC, locus specific analysis, Genome wide Analysis
(Microarray), Sequencing based mapping.

Unit-IV Epigenetic predisposition to diseases

Principles of epigenetic dysregulation, Chromatin diseases (eg.. Rett Syndrome), Imprinting
disorders beyond embryogenesis (Molecular analysis of Prader-Wili Syndrome, Angelman
syndrome, Beckwith-Wiedemann syndrome), Assisted reproductive technologies and imprinting;
Epigenetics in major disease groups (Cardiovascular disease, Diabetes, kidney disorders);
Epigenetic involvement in Neurodegeneration (Parkinson’s disease, Mental health)

Recommended Books
1. Armstrong L, Epigenetics, Garland Science, (latest edition)
2. Zheng YG, Epigenetic Technological Applications, Academic Press (latest edition)
3. Slack JMW, Essential Developmental Biology, Wiley-Blackwell (latest edition)
4. Lodish H, Berk A, Kaiser CA, Krieger M et al. (2016). Molecular Cell Biology, 8th ed.,
W. H. Freeman and Co., New York.
5. Cooper GM (2018) The cell A Molecular Approach, Oxford University Press

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M.Sc. Human Genomics Syllabus

Suggested Reading
1. Zlatanova J, vanHolde K (2015) Molecular Biology : Structure and Dynamics of Genomes and
Proteomes, Garland Science
2. Latchman DS (2015) Gene Control, Garland Science
3. Carlberg C, Molnar F (2018) Human Epigenomics, Springer
4. Barresi MJF, Gilbert SF (2019) Developmental Biology, 12 th ed., OUP

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M.Sc. Human Genomics Syllabus

Paper III (MHG 303) Human Molecular Genetics–II

Objective of the paper: Student learns how particular character/phenotype can be mapped on
human genome and to identify its causal gene (s). Student will learn various strategies to map
and manage simple Mendelian diseases, complex diseases along with rare genetic diseases

Unit-I Genetic Mapping of Mendelian Characters: Role of recombination (Recom. Fraction,

Mapping function, Estimation through chiasma counts, Genetic map distances & physical map
distances); Mapping disease locus (informative & non informative meiosis, Genetic markers &
their heterozygosity), Two point Mapping (scoring recombinants, Lod score, known & unknown
phases, exclusion mapping); Multipoint Mapping (CEPH fam., framework of markers);
Autozygosity mapping; Difficulties with Lod score analysis

Unit-II Identification of Human Disease Genes: Positional cloning (Candidate reg, candidate
genes, Prioritization of cand. genes for mutation testing, Appropriate expression, function,
Homologies, & functional relationship, Model organism esp. mouse); Utility of chrom.
Aberration, X-autosomal translocations, balanced rearrangements; Position independent
strategies (Protein product, function & interaction of product, Animal Model, DNA sequence
characteristics); Examples of disease gene identification (DMD, Cystic fibrosis, Multiple
sulfatase deficiency, Breast Cancer).

Unit-III Mapping Genes for Complex Diseases

Genetics of Polygenic and Multifactorial characters (Quantitative model, Heritability measures);
Family study, Twin study, Segregation Analysis, Linkage analysis; Linkage Disequilibrium
(Possible causes, distinction from LA); Epidemiologic considerations (Conduct, Interpretation),
Genetic Association Studies & limitations (inadequate ctrls, multiple testing, power of study),
Association studies in practice (TDT, Sib-pair analysis, Case ctrl design), Hap-Map project and
its contribution, GWAS and Meta- Analysis.

Unit-IV Understanding the Rare and Common human Diseases

Gene- Environment interactions and common diseases, Copy number variations and Diseases,
(SNP based & CNV based GWAS), Detection of CNVs, CNVs in Cancer, Pre mRNA splicing
and Diseases, Epidemiologic considerations, Prediction of disease risk; Biological pathways in
complex diseases (e.g. Inflammatory bowel disease); Connections between diff. disease
pathways; Gene-gene interactions (epistasis) in complex diseases; Genomics of Rare genetic
diseases (GUaRDIAN consortium and its working framework, rare diseases: significant burden,
Major research centres of India, patient support systems.

Recommended Books
1. Strachan and Read, Human Molecular Genetics, Garland Sciences, (latest edition)
2. Al-Chalabi and Almasy, Genetics of Complex Human Diseases, CSH Press (latest edition)

Suggested Books
1. Strachan et al, Genetics and Genomics in Medicine, Garland Sciences, (latest edition)
2. The GUaRDIAN Consortium, Sivasubbu and Scaria, Genomics of rare genetic diseases-
experiences from India, Human Genomics (2019) 13:52

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M.Sc. Human Genomics Syllabus

Paper IV (MHG 304) Genomics and Proteomics

Objective of the paper: To provide knowledge to the students about genomics, proteomics and
their applications.

Unit –I Whole Genome Analysis

Genome sequencing : Conventional Sequencing Technologies: Enzymatic, Chemical and Sanger
sequencing; NGS and third generation, library preparation and assembly methods; RNA seq,
exome seq, cancer genomics, comparative genomics, introduction to synthetic genomes

Unit-II Pharmacogenomics
Drug Metabolism (Phase I&II); Genetic makeup & Drug Response (Interethnic differences);
High throughput screening for drug discovery; Identification of drug targets; Pharmacogenetics
and drug development; Clinical trials; Pharmacogenomics; Regulatory perspectives on
pharmacogenomics; Disease predictive potential of genetic polymorphism of enzymes (Cyp 450)

Unit-III Behavioral Genomics and metagenomics

Nature-Nurture and behavior, Identifying genes for behavior (Principles of QTL detection, Two
marker QTL linkage mapping, Complex pedigree designs), Psychopathology, Signs and
symptoms, Personality and personality disorders- antisocial personality, criminal behavior,
Schizophrenia, Mood disorders; Cognitive abilities and disabilities; Neurogenetics,.
Metagenomics, human microbiome and diseases

Unit- IV Proteomics
Protein-protein interactions and functional proteomics; Two dimensional separation of total
cellular proteins, 2D-DIGE, isolation and sequence analysis of individual protein spots by mass
spectroscopy. Protein microarrays, differential display proteomics, yeast 2-hybrid system,
mammalian 2-hybrid system, FRET, bimolecular fluorescence complementation assay, GFP
tagging.

Recommended Reading
1. T.A. Brown TA (2018) Genomes 4, Garland Science
2. McCombie WR, Mardis ER, Knowles JA, McPherson JD (2019) Next Generation sequencing
in medicine, CSHL Press
3. Clark DP, Pazdernik NK, McGehee MR (2019) Molecular Biology, Academic Press
4. Bazzett TJ (2008) An Introduction to behavior genetics, Sinauer
5. Selected articles in journals

Suggested Reading
1. Yan Q (2014) Pharmacogenomics in drug discovery and development (2nd ed.), Humana Press
2. Lambert C, Baker D, Patrinos GP (2018) Human Genome Informatics: Translating Genes Into
Health, Academic Press
3. Pevsner (2015) Bioinformatics and Functional Genomics, Wiley Blackwell

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M.Sc. Human Genomics Syllabus

SEMESTER IV

Paper I (MHG 401): Project Work and Presentation:

Objective of the paper: To make students learn how to carry out research independently. This
involves how to raise a query, its possible hypothesis, experimentation and analysis of data
obtained.

Project work under supervision of Faculty member in the department;

Submission of Project Report;
Evaluation of Project Work & Report through a Panel of Examiners (Minimum of three)

Paper III (MHG 402): Clinical Round & Viva:

Objective of the paper: Visiting hospital/clinical laboratories provides a real picture of various
human diseases along with the treatment & sufferings of those patients. This will motivate
students to understand such cases & work towards discovering the cause of disease & new
treatment of diseases. These clinical visits are also supplemented by lectures taken by clinicians.

Visit to PGIMER clinical/research laboratories;

Lectures by renowned PGIMER faculty;
Submission of Report;
Evaluation of visit & report by a Panel of Examiners (Minimum of three)

Paper III (MHG 403): Educational Tour & Journal Club:

Objective of the paper: The objective is to provide a chance to students to interact with principal
investigators of various laboratories in the Universities/Institutes of national repute so that
students get personal account of the research in frontier & emerging areas. The other objective of
this paper is to make students understand & analyze the research articles published in reputed
journals. They also learn to interpret & present the research work pertaining to their field of
interest.

A mandatory tour to research institute/University of national repute under the supervision of

a faculty member and non-teaching staff;
Submission of Educational Tour Report;
Evaluation of Educational Tour Report;
Two Power Point Presentations/Seminars discussing the recent scientific papers;
Presentation/Seminar evaluation by Internal Examiners.

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M.Sc. Human Genomics Syllabus

Semester wise list of practical for M.Sc. Human Genomics

MHG 105
Assay to determine activity of an enzyme
Effect of pH on enzyme activity and stability
Effect of temperature on enzyme activity and stability
Effect of metal ions on enzyme activity
The effect of enzyme concentration on the rate of enzyme catalyzed reaction
Effect of substrate concentration on enzyme activity and demonstration of the Km and Vmax of
the reaction
Effect of inhibitors on enzyme activity
Sterile-handling techniques for culture of bacteria and preparation of media
Storage of microbes
Determination of generation time and log-phase from the growth curve of bacteria
Isolation of genomic DNA from E. coli/ cultured cells
Spectrophotometric analysis of DNA
Isolation of RNA and its qualitative and quantitative analysis

MHG 106
Exp on epistatic interactions including test cross and back cross
To study sex linked inheritance in Drosophila
Determination of linkage and crossover
To analyze inheritance of human phenotypic character through Pedigree analysis
To perform pipetting exercises to learn adjustment & pipetting
To study barr body from buccal smear
To analyze blood groups in humans
To collect and test if population data follows Hardy Weinberg equilibrium
To test factors affecting allele frequency in population
To study genetic admixture from collected data
To perform chromosome banding and karyotype
Analyze human karyotype chart for different genetic disorders
To analyze dermatoglyphics of finger balls
Exp to analyze probability and chi square in life science situations
To study Graphical representation of quartiles (box and whisker plots)
Exp to demonstrate of z-test, t-test and its application in biological samples
To collect data and perform regression analysis
To study application of binomial distribution in analysis of biomedical data
To test risk of inheritance of a particular disease using Bayesian calculations
Buffers: theory and practice. Preparation and storage of buffers and protein stock solutions:
Concept of pH, buffers and pKa; Preparation of buffers in the laboratory over a pH range (2 to
11); Additives for buffers; Use of pH meters. Handling of proteins and storage concerns.
Protein quantitation and characterization: Protein estimation by reagent, dye and non-invasive
methods; Concept of extinction coefficient. Spectroscopic characterization of proteins.
Sub-cellular fractionation of liver homogenate by differential centrifugation method and
identification of the organelles by measuring marker enzymes.

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M.Sc. Human Genomics Syllabus

MHG 205
Chromatographic techniques: Gel filtration chromatography, Ion-Exchange Chromatogrpahy
Understanding and retrieval of Sequence information resources on the web:
NCBI, Genbank, EMBL, Ensembl, ExPASy
Understanding and retrieving Protein information from: RefSeq, UniProt, PDB
Study information retrieval from PubMed, BookShelf at NCBI
Compare two sequences using Dot Plot method for pairwise alignment
Equilibrium unfolding of proteins using denaturants.
Total Leukocyte Count (TLC) and Differential Leukocyte count (DLC) of blood samples
Isolation of peripheral blood mononuclear cells from blood samples
Determination of cell viability
Immunoassays
Animal handling
Routes of immunization
Drawing blood from animals

MHG 206
To study the different sources and storage of sample required for recovery of DNA.
To extract DNA from mouse tissue
To extract DNA from Human blood sample
Analysis of nuclear and mitochondrial DNA
To quantitate amount and purity of isolated DNA
Determination of linkage and crossover
To perform PCR to detect genetic variations
Exp to analyze repetitive sequences and their polymorphisms
Experiment to identify & select restriction endonuclease for RFLP experiment.
Perform RFLP to detect genetic variation in test sample
To Perform SSCP as an screening strategy for genetic variations
Perform DNA fingerprinting using random amplification of polymorphic DNA (RAPD).
Exp to analyse application of heteroduplexes in genetic variation analyses
To screen genetic mutation using Allele specific PCR.
Plasmid DNA isolation and DNA quantitation
Restriction Enzyme digestion of plasmid DNA
Agarose gel electrophoresis
Polymerase Chain Reaction and analysis by agarose gel electrophoresis
Vector and Insert Ligation
Preparation of competent cells
Transformation of E. coli with standard plasmids, Calculation of transformation efficiency
Confirmation of the insert by Colony PCR and Restriction mapping
Expression of recombinant protein, concept of soluble proteins and inclusion body formation
in E. coli, SDS-PAGE analysis
Purification of His-Tagged protein on Ni-NTA columns
Isolation of RNA from cell line and its qualitative and quantitative analysis.
cDNA synthesis and RT-PCR

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M.Sc. Human Genomics Syllabus

MHG 305
Protein Crystallization [Lysozyme]
Demonstration of X-ray crystallography of proteins [Crystal mounting, data collection, [in
collaboration with IMTECH, Chandigarh]
Demonstration small molecule NMR [CIL, PU, Chd]
Use BLAST for sequence similarity search and Interpret the results. Using various BLAST
versions: BLASTp, BLASTn, BLASTx, tBLASTn, tBLASTx,PSI BLAST, PHI BLAST, MEGA
BLAST
Study multiple sequence alignment using Clustal Omega
Protein Structure prediction: Secondary structure prediction softwares (web based)
Tertiary Structure prediction using homology modelling (Swiss Model)
Molecular phylogenetic analysis
Exp to use methylation specific Restriction endonucleases to detect methylation status
Exp to screen DNA methylation using bisulfite modification of DNA and MSP-PCR
To isolate and quantitate RNA from human/mouse/cell culture sample
Perform Reverse Transcriptase PCR to study alternate splicing
To identify CpG islands from sequence analysis

MHG 306
To identify informative and non-informative meiosis from provided pedigree data
Mapping exercises to locate the gene and its relative position in genome
To identify linkage using pedigree analyses and Lod score calculations
To perform phase analysis to identify haplotypes
To calculate and identify Linkage disequilibrium from population data
To identify risk alleles in a case control study using Association analysis
Collect data on specific rare diseases from Indian databases
To perform case control study to identify gene environment interactions
To interpret GWAS data for future study design
How to perform sample size calculation and determine power of the study
Demonstration of co-immunoprecipitation
Demonstration of pull down assay
Determination of the IC50 value of a drug using MTT assay
Online hands on exploration for an overview of:
- Human Genome Resources at NCBI
- Ensembl Genome Browser
- The UCSC Genome Browser
- The Cancer Genome Atlas
- The Genome Aggregation Database (gnomAD)

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