Lecture 5 - Online Resources Pt1

Question 1

What is the aim of the 1000 human genomes project?

Answer 1

To find most genetic variants w frequencies of at least 1% in populations studied

Question 2

How were genomes sequenced in the 1000 human genomes project?

Answer 2

Through high-throughput parallel sequencing

Question 3

There were 3 major findings from the 1000 human genomes project. What is the 1st major finding?

Answer 3

Individuals from different populations carry different profiles of rare and common variants

Question 4

There were 3 major findings from the 100 human genomes project. What is the 2nd major finding?

Answer 4

Rare variants were found substantially more in certain geographical locations

Question 5

There were 3 major findings from the 100 human genomes project. What is the 3rd major finding?

Answer 5

On average, each person carries around 250-300 loss of function variants in annotated genes and 50-100 variants previously implicated in inherited disorders

Question 6

What is Ensembl?

Answer 6

A genome browser where 1000 genome project data can be viewed

Question 7

What is Ensembl GRCh38?

Answer 7

It allows the view of the 1000 genomes project data on current human reference genome

Question 8

How are SNPs categorized in Ensembl?

Answer 8

Every SNP has a RS number associated with it

Question 9

For example, what is rs1333049 associated with?

Answer 9

With heart disease, in particular, CAD