PGx Online Resources I

Question 1

Aim of 1000 Human Genome Project

Answer 1

find the most genetic variants with frequencies of at least 1% in the populations studied

occurred in 2008

Question 2

How many populations studied in the Human Genome Project?

Answer 2

26 populations

Question 3

What type of sequencing did the Human Genome Project use?

Answer 3

whole genome sequencing by high-throughput parallel sequencing

Question 4

Major Findings from the 1000 Human Genome Project

Answer 4

• individuals from different populations 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

Question 5

Additional Major Findings

Answer 5

Allele Frequencies of SNP’s are different in populations
- the rs671 allele of ALDH2 responsible for asian flush is rare amount Europeans and Africans
- 30-50% of Chinese, Korean, and Japanese have at least 1 ALDH2 allele

Many SNP’s are inherited together (haplotype)

Question 6

What population has the most polymorphisms?

Answer 6

African population

Question 7

Ensembl

Answer 7

• genome browser where the 1000 genomes project data can be viewed alongside a wide range of additional sources
• date viewing is not intuitive; need to utilize more databases

http:useast.ensembl.org

Question 8

Ensembl GRCh38

Answer 8

1000 genomes project on the current reference genome