L5&6 Online Resources Flashcards
1
Q
What was the goal of the 1000 human genomes project?
A
The goal was to find most genetic variants with frequencies of at least 1% in the populations studied.
2
Q
What were the 3 major findings of the 1000 Human Genomes Project?
A
- Individuals from different population carry different profiles of rare and common variants
- Low-frequency variants show substantial geographic differentiation
- Each person carries around 250-300 loss-of-function variants in annotated genes and 50-100 variants previously implicated in inherited disorders
3
Q
What were the major findings regarding SNPs?
A
- allele frequencies of SNPs are different between populations (Asian flush)
- Many SNPs are inherited together (linkage disequilibrium/haplotype block)
4
Q
Which population has the most polymorphisms that are found in other populations?
A
African population
5
Q
What can be used to view the 1000 Genomes Project data on the current human reference genome?
A
Ensembl GRCh38
6
Q
Where is the first Pgx reference you should check?
A
PHARMGKB.org
