1-27/29-25

Question 1

what is the goal of 1000 genomes project (1KGP)?

Answer 1

to create a detailed catalogue of human genetic variation by sequencing the genomes of at least 1000 individuals from various ethnic groups

Question 2

who participated in the 1KGP?

Answer 2

2504 healthy individuals from 26 human populations

Question 3

what was read in the 1KGP?

Answer 3

short-read DNA sequencing

Question 4

what was the major finding regarding profiles from the 1KGP?

Answer 4

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

Question 5

what were the other major findings of the 1KGP?

Answer 5

low frequency variants show substantial geographic differentiation
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

how many loss of function variants are in annotated genes on average?

Answer 6

250 to 300

Question 7

what is the Ensembl variation database?

Answer 7

stores areas of the genome that differ between individual genomes (variants) and where available, associated disease, and phenotype information

Question 8

what are the different types of variants in the 1KGP?

Answer 8

single nucleotide polymorphism (SNPs)
short nucleotide insertions and/or deletions
longer variants classified as structural variants (including CNVs)

Question 9

what is the first place you should check for pharmacogenomics information?

Answer 9

PHARMGKB

Question 10

what does prescribing info say in PHARMGKB?

Answer 10

explains how to adjust treatment of certain medication based on a person’s genetic information
includes information from clinicial guideline annotations, drug label annotations, and RX study annotations

Question 11

what are PharmGKB annotations present?

Answer 11

a brief summary of the genotype-based dosing recommendations and links to the source publication/documents