Bioinformatics: Introduction and Methods 生物信息学: 导论与方法

Week 6
Functional Prediction of Genetic Variants
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Quiz: Functional Prediction of Genetic Variants

7 questions

 Quiz • 30 min

Functional Prediction of Genetic Variants

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Due DateNov 30, 7:59 AM CET
Attempts3 every 8 hours
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Functional Prediction of Genetic Variants
Graded Quiz • 30 min

Due Nov 30, 7:59 AM CET

Functional Prediction of Genetic Variants

Total points 7
1.
Question 1

Which of the following mutations is NOT single nucleotide variation?

下面哪一个不属于编码区单核苷酸变异的种类？

1 point
nonsynonymous mutation

非同义突变

synonymous mutation

同义突变

stop gain mutation

终止密码子获得

frame-shifting mutation

移码突变

2.
Question 2

How many single nucleotide variants are there in the genome of a human individual?

一个人的基因组中大约有多少单核苷酸变异？

1 point

30,000,000

3,000,000

300,000

30,000

3.
Question 3

Which of the following statements is true with respect to pathogenic and neutral
mutations?

关于致病突变和中性突变，下面哪一项是正确的？

1 point

All pathogenic mutations are in conserved regions, and all neutral mutations are in
non-conserved regions.

致病突变均位于保守区，中性突变均位于非保守区

Both pathogenic and neutral mutations are curated by the dbSNP database.

dbSNP 数据库中记录的突变既有致病突变也有中性突变

All pathogenic mutations are in the functional sites of proteins, while all neutral
mutations are in the non-functional sites are proteins.

致病突变均位于蛋白的功能位点，中性突变均位于蛋白的非功能位点

Mutations that exist in patients AND never exist in healthy individuals must be
pathogenic.

在病人中出现且在健康人中没有出现的突变一定是致病突变

4.
Question 4

In which one(s) of the following databases should we search for a known pathogenic
mutation on a gene?

为找到一个基因上的已知的致病突变，可以从下面哪个(些)数据库中查找？

1 point

OMIM
1000 Genomes dataset

LSDBs

HGMD

5.
Question 5

A benchmark test of a prediction method gave the following statistics:

测试一个预测方法的性能，试验后经过统计得到如下数据：

What are the sensitivity, the specificity, and the accuracy for this prediction method,
respectively?

则该方法的敏感性(sensitivity)、特异性(specificity)、准确率(accuracy)分别是多
少？

1 point

0.80, 0.50, 0.90

0.67, 0.50, 0.60

0.67, 0.25, 0.30

0.80, 0.60, 0.70

6.
Question 6

What's the FDR we can get from the data of Question 5?

第五题数据得到的 FDR 是多少？

1 point

0.33

0.75

0.66

0.25

7.
Question 7

Which of the algorithm is not design for predict the functional effects of
nonsynonymous mutations

下面哪一个算法不是用来预测非同义突变对功能的影响

1 point

SAPRED

SIFT
PolyPhen

Bowtie