REVIEW

doi: 10.1111/age.13010

Online Mendelian Inheritance in Animals (OMIA): a record of

advances in animal genetics, freely available on the Internet for
25 years
F. W. Nicholas
Sydney School of Veterinary Science, University of Sydney, Sydney, NSW 2006, Australia.

Summary For the last 25 years, Online Mendelian Inheritance in Animals (OMIA) has been providing free
global access to an ever-increasing record of discoveries made by animal geneticists around
the world. To mark this 25-year milestone, this document provides a brief account
(including some pre-history) of how OMIA came to be; some timelines of important
discoveries and advances in the genetics of the animal species covered by OMIA, gleaned
from the OMIA database; and an analysis of the current state of knowledge regarding likely
causal variants of single-locus traits in OMIA species, also gleaned from the OMIA database.
Keywords animal model, catalogue, disorders, likely causal variants, precision medicine,
rare disease, single-locus traits

didn’t take long before I was receiving numerous queries

Introduction
Soon after the rediscovery of Mendelism more than
100 years ago, geneticists began assembling lists of traits
that are inherited in a single-locus Mendelian manner in
domesticated animals. The history of these assembled lists
has been summarised by Nicholas & Hobbs (2014). The
development of the Internet provided a powerful opportu-
nity to render such lists more readily available. Within
4 years of the global availability of the World Wide Web,
Online Mendelian Inheritance in Animals (OMIA) was
launched as a free online resource in 1995. To mark the
25th anniversary of OMIA, the following account provides a
history of its development, highlighting the extraordinary
progress that has been made in online resources and in
animal genetics in the last 25 years. A summary of current
knowledge of single-locus traits is also included, together
with an analysis of the role of different types of mutations in
relation to pathogenic and non-pathogenic traits.
A brief history of OMIA
The history of OMIA goes back to 1974, when I started
lecturing in animal genetics in the faculties of Veterinary
Science and Agriculture at the University of Sydney. It
Address for correspondence
F. Nicholas, Sydney School of Veterinary Science, University of Sydney,
Sydney, NSW 2006, Australia.
E-mail: frank.nicholas@sydney.edu.au
Accepted for publication 13 September 2020
from breeders and veterinarians, asking whether a partic-
ular disorder in a particular species is inherited and, if so,
how it could best be controlled. The more trips I made to the
university’s excellent biology library, chasing up the latest
relevant papers, the more I became convinced that this type
of information should be recorded in a single resource. I
soon became aware that Dr Victor McKusick, then Professor
of Medicine within the Division of Genetics, Johns Hopkins
University Medical School, had perceived the same need in
human genetics back in the early 1960s. His response had
been to begin assembling a compendium of (mainly) single-
locus disorders and other traits in humans. He named his
compendium Mendelian Inheritance in Man (MIM). From
1964 MIM was maintained as a single electronic ASCII text
file on a mainframe computer at Johns Hopkins University.
From time to time, this ASCII file (ALL IN UPPER-CASE
LETTERS!) was published as a book: the first edition of MIM
was published in 1966 (McKusick 1966).
Dr McKusick used the word ‘phene’ to describe the entries
in MIM. The context was: phene is to gene, as phenotype is
to genotype. The word ‘phenotype’ could not be used to
describe an entry because there are at least two phenotypes
associated with any mutation, namely the mutated pheno-
type (reflecting a genotype with one or two copies of the
mutant allele, depending on the type of gene action) and the
wild-type (normal) phenotype (reflecting one or more other
genotypes at that same locus). Interestingly, there is no
entry for ‘phene’ in a genetics context in the Oxford English
Dictionary. Some brief research has turned up mention of it
in a 1967 review of developmental genetics by another

© 2020 Stichting International Foundation for Animal Genetics, 52, 3–9 3

4 Nicholas
Johns Hopkins medical faculty member, Heinrich Ursprung,
who used the word as if its meaning in the genetics context
was well known in the 1960s (Ursprung 1967). In any
case, Dr McKusick used it widely, e.g. McKusick (2007).
Consequently, each entry in MIM (and each non-gene entry
in its online successor OMIM – see below) is an entry for a
phene. I quickly adopted this way of thinking.
In August 1978, shortly after the publication of the fifth
edition of MIM (McKusick 1978), I introduced myself to Dr
McKusick at the XIV International Congress of Genetics in
Moscow, explaining that I would like to do the same thing
for animals as he was doing for humans, i.e. to create
Mendelian Inheritance in Animals (MIA). My thinking was to
follow MIM by using a six-digit numeric ID for each phene
and, wherever possible, the human name for all animal
disorders that appeared to have a human homologue. The
MIM numeric ID would be used as a means of cross-
referencing MIM entries to MIA. Obviously, there would be
a big stress on comparative biology. Dr McKusick was
encouraging.
In 1980, a colleague Jan Graham was employed on a
three-year grant to do all the legwork in the library
(including photocopying papers!) and then to enter the
relevant information into a mainframe database, prepared
and managed by another colleague, Steve Brown. In this
way, MIA was gradually assembled.
Meanwhile, in the USA Dr McKusick and his colleagues
were, not surprisingly, early adopters of the Internet. In
September 1987, MIM became Online MIM (OMIM) when
the MIM ASCII file was made available on the Internet from
the Welch Medical Library of Johns Hopkins University,
searchable by the IRX (Information Retrieval eXperiment)
database searching program developed by the National
Library of Medicine, with MIM as its first trial dataset
(Williamson 1986; Harman et al. 1988; McKusick 2007).
The next year, 1988, the National Center for Biotechnology
Information (NCBI) came into existence, a birthchild of the
National Library of Medicine.
Computing technology was evolving rapidly. Around
1990, MIA was moved to a SCIMATE bibliographic database
on an IBM-compatible 286 microcomputer. A year or so
later, it was moved again to a powerful relational database
called Advanced Revelation (ARev) (Small 1988), first on the
microcomputer and then onto a laptop. Steve Brown’s ARev
software was in regular use for more than 20 years.
The year 1991 witnessed two major developments: the
World Wide Web (www) came into global existence, and
the Australian National Genomic Information Service
(ANGIS) was created at the University of Sydney. The
potential of the www was immediately evident: here was
means by which MIA could be made available throughout
the world. And ANGIS had the local resources to achieve
this. By regularly pestering ANGIS staff (especially their
head programmer, Carolyn Bucholtz) I launched myself on
a steep bioinformatics learning curve.
© 2020 Stichting International Foundation for Animal Genetics, 52, 3–9
All this came to fruition in 1995, when Carolyn
Bucholtz worked her wonders in creating the original
OMIA web page, populating it with a flat file exported
from ARev, and teaming it up with a BIRX search engine
(a www-compatible batch version of IRX), kindly provided
by Dennis Benson and Randy Huntzinger, with support
from David Lipman, all from NCBI. Dr McKusick solved a
pivotal problem with permissions to cite references,
enabling the web page to be made public on 26 May
1995. Its (somewhat clumsy) domain name was
www.angis.su.oz.au/Databases/BIRX/omia/omia_form. On
1 December of that same year, OMIM was launched on
the www by NCBI as www.ncbi.nlm.nih.gov/omim, using
the same BIRX search engine as had been provided to
OMIA (McKusick 2007).
In May 1997, OMIA’s domain name was simplified to
omia.angis.org.au. A month later, NCBI launched a new
bibliographic resource: PubMed was born.
One obvious way to exploit the power of the Internet was
to use the OMIM and OMIA six-digit IDs as a means of
creating reciprocal hyperlinks between the two resources.
With substantial help from David Lipman from NCBI and
Joanna Amberger from Johns Hopkins University, reciprocal
hyperlinking of OMIM and OMIA came into operation on 16
October 1997. This meant that, at the click of a mouse
(inanimate in this case), anyone accessing OMIM had direct
access to information on animal models of human inherited
disorders, and veterinarians and breeders had immediate
access to information on what could be called human
models of animal inherited disorders. This was a major step
forward for comparative biology.
Early in 2004, Mike Poidinger, then Head of ANGIS,
generously transferred all the tables of the ARev database
on the laptop to a MySQL database on an ANGIS server. He
also picked up the PubMed URLs for thousands of refer-
ences. With invaluable contributions from numerous col-
leagues (each of whom is acknowledged at https://omia.
org/acknowledgements/) in Sydney and at NCBI over the
next 18 months, on 10 September 2005 Carolyn’s original
web page was retired, and the new ANGIS version of OMIA
was launched. For the first time, OMIA could be curated
online. It was revolutionary to be able to add a reference or
change some text, and immediately see those changes on
the website!
In that same year (2005) Matthew Mailman from NCBI
expressed interest in linking OMIA to a phenotype database
under development at NCBI. This proved to be the begin-
ning of a fruitful collaboration, culminating in a mirror of
OMIA being hosted at NCBI as an Entrez database. To see
OMIA and OMIM sitting alongside each other at NCBI was
something special. Nine years later, the mirror was decom-
missioned by NCBI because of low traffic flow, compared
with other NCBI resources. In the end, this turned out to be
not such a bad move, because, despite all the power of
NCBI’s Entrez system, the OMIA mirror was not able to

provide the same level of related information as the OMIA
home site.
In March 2010, the OMIA database and website were
relocated to a virtual server hosted by Information and
Communications Technology at the University of Sydney.
Commencing in August 2010, Matthew Hobbs began a
major overhaul of the OMIA master database and develop-
ment of a new website with improved curation tools, based on
django, a high-level Python Web framework. On 10 August
2011, Matthew’s new version of OMIA was launched.
From 1 September 2011, textual species names were
replaced with NCBI Taxonomy species IDs. As a conse-
quence, the OMIA ID became binomial, with the format
OMIA xxxxxx-yyyy. . ., where xxxxxx is the six-digit ID for a
phene, and yyyy. . . is the NCBI species taxonomy ID
(usually four digits, but sometimes longer). This greatly
facilitated referencing and hyperlinking to OMIA entries in
publications: the URL for a particular OMIA page became a
simple function of the OMIA binary ID.
Also in 2011, OMIM moved to a new website hosted
by Johns Hopkins University, with the domain name
omim.org. A few years later, an opportunity arose for
OMIA to obtain the ‘homologous’ domain name
omia.org, thereby emphasising the comparative nature
and the global reach of the two websites. The purchase
was made from a domain register on 13 April 2015 for the
princely sum of US$425! Consequently, the domain name
omia.angis.org.au was retired after 18 years of loyal service.
A recurring question has been whether OMIA should
include QTL, especially for those multifactorial disorders
that it does include, e.g. hip dysplasia. OMIA’s over-riding
principle has been to leave QTL to AnimalQTLdb main-
tained at https://www.animalgenome.org/cgi-bin/QTLdb/
index, i.e. to try, as far as possible, to highlight
AnimalQTLdb as the repository for QTL. In practice, of
course, there are substantial overlaps, and decisions are
made on a case-by-case basis (not always with complete
consistency!). One possible way of addressing this issue
would be to apply the concept of endophenotypes (John &
Lewis 1966), which can be considered as identifiable
Mendelian phenotypes that contribute to variation in a
multifactorial trait.
Looking to the future, OMIA has considerable potential to
help in resolving ‘buried SNPs’ (Sasaki et al. 2019) and
variants of unknown significance. In the latter case, for
example, it would be feasible for OMIA to include the
relevant information about the 5667 single-locus human
disorders documented in OMIM, any one of which could
occur in any animal species, and for which, currently, only
a small fraction (no more than 6%) have been reported in
any OMIA species. Conversely, OMIA’s hyperlinks with
OMIM could be helpful to researchers puzzling over human
variants of unknown significance.
In recent years, several major enhancements of OMIA
have been undertaken by software engineers whose much-
© 2020 Stichting International Foundation for Animal Genetics, 52, 3–9
25 years of OMIA 5
appreciated services were provided by the Sydney Infor-
matics Hub within the University of Sydney. The projects
are summarised and everyone involved is acknowledged at
https://omia.org/acknowledgements. A particularly impor-
tant enhancement was the creation of downloadable tables
of all known likely causal variants (Tammen & Nicholas
2018). Many more enhancements are planned for the
future and will be undertaken as soon as funding can be
raised. Following in the footsteps of OMIM (with guidance
from Joanna Amberger), a crowdfunding appeal for OMIA
was launched in 2019 (https://omia.org/donate/), in the
hope of generating sufficient funds to enable the many
much-needed enhancements to become reality, and to
render OMIA sufficiently sustainable for it to be able to
celebrate its 50th birthday in 25 years’ time.
Timelines of important discoveries and
advances in animal genetics
In attempting to record all discoveries relating to inherited
disorders and non-disorder single-locus phenes in all animal
species not covered in other Internet resources (called OMIA
species), the OMIA database incorporates records of many
milestones that have been achieved in animal genetics.
Nicholas & Hobbs (2014) reviewed the early discoveries of
phenes showing Mendelian inheritance, as documented in
OMIA. They also retold the often heroic stories of initial
discoveries of likely causal variants in the 1980s and early
1990s, as also documented in OMIA.
The present paper summarises the historical storyline
since the development of DNA molecular tools in the early
1980s in a series of five supporting tables. Table S1
summarises the first discoveries of each of the types of
likely causal variants that give rise to the astonishing array
of single-locus phenes in OMIA species. Table S2 sum-
marises discoveries of the first likely causal variant in many
of the animal species included in OMIA. The next two tables
are gleaned from the OMIA list of mapping papers (https://
omia.org/key_articles/maps): Table S3 records the history
of draft genome sequences/assemblies and Table S4 records
initial developments of high-density SNP panels. Table S5,
gleaned from the OMIA list of Landmark papers (https://
omia.org/key_articles/landmarks), records other important
discoveries and milestones in the genetics of OMIA species.
Current knowledge
We shall now briefly review the information in OMIA.
Table 1 provides a numerical summary of the current state
of knowledge recorded in OMIA (as at 12 June 2020). The
total numbers of Mendelian phenes in each of the major
animal species (first row of data), has increased by around
50% since a similar table was compiled by Nicholas & Hobbs
(2014). The total numbers of phene-species for which at
least one likely causal variant has been published have
6 Nicholas

Table 1 The numbers of single-locus (Mendelian) traits published in OMIA species and the numbers of such traits for which likely causal variants
have been discovered, at the time of writing (12 June 2020)

Animal species

Dog Cattle Chicken Sheep Cat Pig Horse Goat Other Total

Total number of Mendelian traits 353 254 131 109 111 85 59 18 384 1504
Total number of Mendelian traits with at least one likely causal 281 161 51 54 76 39 46 14 166 888
variant known
Total number of likely causal variants known 407 216 66 68 119 47 97 25 150 1195

Hyperlinks to lists, and thence to details, of the actual traits and variants summarised in this table are available from the home page of Online
Mendelian Inheritance in Animals (OMIA): https://omia.org.

increased by around 75%, the overall total increasing from
499 to 888 in the past 6 years.
Of particular interest are the actual numbers of likely
causal variants that have been published for phenes in
OMIA species: the total number has more than doubled
from 556 to 1195 in the past 6 years. The timeline of their
discovery is shown in Fig. 1. In the last five complete years,
the average number of new likely causal variants published
was 81 per year, equivalent to one every 4.5 days. In the
current year (2020), newly discovered likely causal variants
for OMIA species are being published at an average rate of
one every 3.8 days.
The discovery of likely causal variants in humans has
been, of course, on a far larger scale. The Human Gene
Mutation Database (HGMD) (Stenson et al. 2017) lists
275 716 variants discovered up to the end of 2019 (http://
www.hgmd.cf.ac.uk/), with the average number reported
over the most recent five full years being 21 212 per year.
Despite the enormous difference in these numbers between
humans and OMIA species, Fig. 2 shows that the relative
rate of discovery is similar for the two groups, with an
increasing trend, reflecting the ever-increasing power of
genomic technologies.
The types of variants in OMIA are classified according to
the classification system developed by the HGMD, with a few
modifications, such as dividing the HGMD missense/non-
sense category into its two components. Fig. 3 shows the
frequency distribution of types of variants reported in OMIA
species (OMIA) compared with humans (HGMD). Although
the distributions are not homogeneous, overall there is

Figure 1 The timeline of discovery of likely

causal variants for Mendelian phenes in OMIA
species up to 2019 (the most recent complete
year)

Figure 2 A comparison of the time scale of

discovery of likely causal variants in OMIA
species (Online Mendelian Inheritance in Ani-
mals; https://omia.org) and in humans (HGD;
Human Gene Mutation Database; http://
www.hgmd.cf.ac.uk), expressed in terms of
the percentage of the total number of known
variants reported in each year

© 2020 Stichting International Foundation for Animal Genetics, 52, 3–9

 25 years of OMIA 7

Figure 3 The distribution of types of muta-

tions giving rise to likely causal variants in
OMIA species and in humans (HGMD)

substantial similarity. In both cases, missense mutations Table 2 Distribution of pathogenic and non-pathogenic variants in
account for by far the largest percentage of variants. Noting OMIA species as at 12 June 2020, in relation to type of mutation, based
on the categories used by the Human Gene Mutation Database
(as in Nicholas & Hobbs 2014) that 21 of the 61 non-stop
(HGMD; http://www.hgmd.cf.ac.uk)
codons in the genetic code are ‘near-stop’, i.e. one base
substitution away from a stop codon, the expected ratio of Non-
missense to nonsense variants is 40:21 (34% nonsense), Pathogenic pathogenic Totals
assuming that all possible single-nucleotide substitutions
Totals 799 71% 334 29% 1133
and all non-stop codons are equally likely. The breakdown
of the current OMIA numbers for this category in OMIA Missense 255 32% 134 40% 389
Deletion, small (≤20 bp) 137 17% 45 13% 182
species is 389:130, which is significantly different from the
Nonsense (stop-gain) 105 13% 25 7% 130
expected ratio (Χ2 = 20.2, P = <0.0001), reflecting a lower Deletion, gross (>20 bp) 73 9% 20 6% 93
proportion of nonsense variants (25%). Interestingly, the Splicing 72 9% 18 5% 90
comparative human data from the Human Gene Mutation Insertion, small (≤20 bp) 54 7% 11 3% 65
Database (HGMD; http://www.hgmd.cf.ac.uk/ac/stats.php) Insertion, gross (>20 bp) 39 5% 19 6% 58
Complex rearrangement 15 2% 16 5% 31
are 129 708:29 997 (19% nonsense), which is an even
Regulatory 15 2% 12 4% 27
greater departure from the simple expectation. Apart from Delins, small (≤20 bp) 13 2% 4 1% 17
the obvious possible explanation that the stated assump- Duplication 6 1% 9 3% 15
tions do not hold, it could be that nonsense mutations are Repeat variation 4 1% 11 3% 15
more likely to give rise to early embryonic lethality, in Haplotype 1 0% 6 2% 7
Inversion 4 1% 1 0% 5
which case they would be less likely to be observed than
Extension (stop-lost) 3 0% 0 0% 3
missense mutations. Not known 1 0% 2 1% 3
Start-lost 1 0% 1 0% 2
Delins, gross (>20 bp) 1 0% 0 0% 1
Pathogenic vs. non-pathogenic variants:
different types of mutations? The variant category ‘haplotype’ is for cases where two or more sites of
mutation are in complete or very strong LD, and authors have argued
The number of published likely causal variants in OMIA that the non-wt variants at the mutational sites are jointly causal. The
species is now sufficient to enable an interesting question to variant category ‘delins’ is the word now recommended (in place of
be asked, namely whether there is any difference in the ‘indel’) for a deletion-insertion variant, by the Human Genome
Variation Society (https://varnomen.hgvs.org/recommendations/
distribution of the types of variants that are pathogenic (e.g.
DNA/variant/delins/)
those causing disorders) compared with those that are not
pathogenic (e.g. those giving rise to most coat and plumage not pathogenic in relation to single-locus phenes are
colours)? The relevant OMIA data are shown in Table 2, included. In interpreting these data, some potential biases
which presents the distribution of both types of variants in should be noted. Some types of mutation, e.g. regulatory
relation to the 18 types of mutation by which OMIA and complex rearrangement, may be under-represented
variants are classified. Not all variants in OMIA have been because by their nature, they are more difficult to discern
included in this analysis: only those that could be classified and to justify with publishable evidence. Also, deletions of
unambiguously (by the present author) as pathogenic or 3 bp, or multiples thereof, are likely to be much less

© 2020 Stichting International Foundation for Animal Genetics, 52, 3–9

8 Nicholas
pathogenic than other categories of small deletions. How-
ever, as such mutations comprise only a small proportion of
small (≤20 bp) deletions, this is unlikely to have a noticeable
effect on the conclusions.
Of the total of 1133 variants in this analysis, 799 (71%)
are pathogenic. While this is consistent with the general
expectation that pathogenic variants are more likely than
non-pathogenic variants (especially for coding regions), the
actual percentage is largely a reflection of the relative
numbers of pathogenic and non-pathogenic Mendelian
phenes that have been amenable to study. Consequently,
this proportion should not necessarily be taken as indicative
of the chance of any new variant being pathogenic.
In an attempt to draw useful conclusions from this
dataset, the last nine mutation types in Table 2 were
omitted because of small numbers, leaving a total of 1065
variants. In analysing the remaining data, the starting point
was to see to what extent different types of mutations could
be pooled on the basis of homogeneous distributions (judged
via Χ2 tests) between pathogenic and non-pathogenic
variants. Applying this strategy in a hierarchical manner
led to the following conclusions:
(i) For each of insertions and deletions, the distribution of
small (≤20 bp) and gross (>20 bp) is homogeneous
between pathogenic and non-pathogenic variants (in-
sertions Χ2 = 4.17; P = 0.07; deletions Χ2 = 0.35;
P = 0.66). Consequently, each of these mutation types
can be pooled across size.
(ii) The distribution of insertions and deletions is
homogeneous between pathogenic and non-pathogenic
variants (Χ 2 = 0.03; P = 0.87). Consequently, these two
mutation types can be pooled.
This leaves six mutation types, as shown in Fig. 4, which
compares the frequency distribution of those six mutation
types for pathogenic and for non-pathogenic variants. The
first three mutation types in Fig. 4 (insertions/deletions,
nonsense, and splicing) are more common in pathogenic
variants, and the other three (missense, complex rearrange-
ments and regulatory) are more common in non-patho-
genic variants. Importantly, all six types are well
© 2020 Stichting International Foundation for Animal Genetics, 52, 3–9
represented (in the context of their overall frequencies) in
both categories of variants.
A different way to interrogate these data is to consider
both variant categories together, and to then ask what is the
probability of each mutation type resulting in a pathogenic
variant? Our benchmark here is the overall proportion of
pathogenic variants, which in the reduced pooled dataset is
72%. In other words, from the pooled OMIA variant data set,
the estimated overall probability of a variant being patho-
genic is 0.72. For each of the six mutation types, the
corresponding probabilities are 0.81 for nonsense mutations,
0.80 for splicing mutations, 0.76 for insertions/deletions,
0.66 for missense mutations, 0.56 for regulatory mutations
and 0.48 for complex rearrangements.
When interpreting the above results, it must be noted
that the data could be biased in the sense that some variant
categories, e.g. missense and nonsense, are easier to
discover than others, e.g. regulatory. The key unanswered
question here is whether there is an interaction between
ease of discovery and pathogenicity.
Conclusion
The material summarised in this review gives a tantalising
hint of some of the information in OMIA. In the not-too-
distant future, it is hoped that the information included
here, and in the Supporting Information, can be made
available on the OMIA website in enhanced graphic form
that will facilitate education and research. Given the nature
of the Supporting Information, the author would be grateful
to be informed of anything that needs to be corrected or
included.
In the meantime, the utility of OMIA can be greatly
enhanced if authors include relevant hyperlinked OMIA IDs
in publications describing any phenes that are included in
OMIA. Because the URL for any OMIA phene is a simple
function of its ID (e.g. the hyperlink for OMIA 000402-
9940 is https://omia.org/OMIA000402/9940/), hyperlink-
ing is a simple task. Some researchers are already doing
this. Everyone is encouraged to do so.
Figure 4 The distribution of types of muta-
tions in OMIA species in relation to pathogenic
and non-pathogenic variants. The first three
types are more likely to give rise to pathogenic
variants; the latter three are more likely to give
rise to non-pathogenic variants

Acknowledgements
I am exceedingly grateful to the large number of people who
have contributed to the development of OMIA since its
inception. Some of them have been named in this review,
but space does not enable all of them to be individually
thanked here. Each is named in the extended history of
OMIA accessible from OMIA’s Acknowledgements tab
(https://omia.org/acknowledgements). Imke Tammen is
thanked for her central role in the planning and execution
of events to mark OMIA’s 25th anniversary, for her
extensive use of OMIA in teaching, and for being contin-
ually on the lookout for ways to enhance the database and
website. Very special thanks are also due to John James for
his invaluable contribution to the variant analysis. Ada
Hamosh, Brandon Veile, Hamutal Mazrier, Imke Tammen,
Claire Wade, Cali Willet and Bianca Waud are all thanked
for their helpful feedback on earlier drafts of this paper. I am
also grateful to the four referees for helpful feedback. The
daily task of attempting to keep OMIA up to date is greatly
aided by colleagues from around the world who provide
notice of new discoveries and who pick up errors of
commission and omission. Their feedback is much appre-
ciated. Special mention must be made of Ernie Bailey for
conducting courses at the University of Kentucky in which
students are allocated OMIA entries in need of improve-
ment. Each student is acknowledged in the resultant
enhanced entry to which they have contributed. And
finally, I am grateful to the many people who have
contributed to OMIA’s crowdfunding appeal. Each of you
has made an important contribution to the long-term
sustainability of OMIA.
Conflict of interest
The author declares no conflict of interest.
Data availability
The animal variant data analysed in this paper are freely
available from the table on the OMIA home page https://
omia.org. The human variant statistics were obtained from
the Human Gene Mutation Database (http://www.
hgmd.cf.ac.uk/ac/stats.php).
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Supporting information
Additional supporting information may be found online in
the Supporting Information section at the end of the article.
Table S1. First publication of each of the major types of
likely causal variants in OMIA animal species
Table S2. First publication of a likely causal variant in
OMIA animal species
Table S3. Draft genome sequences/assemblies, gleaned
from the OMIA list of mapping papers
Table S4. The initial development of high-density SNP
panels, gleaned from the OMIA list of mapping papers
Table S5. Other important discoveries/advances in OMIA
animal species, gleaned from the OMIA list of landmark
papers