Lecture #5

Question 1

1000 human genomes project

Answer 1

aim: goal of the 1000 genomes project was to find most genetic variants with frequencies of at least 1% in the populations studied
from 26 populations
whole genome sequencing by high-throughput parallel sequencing

Question 2

Major findings from 1000 human genomes project

Answer 2

individuals from different populations carry different profiles of rare and common variants
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 3

1000 genomes data in ensembl

Answer 3

ensembl provides a genome browser where the 1000 genomes project data can be viewed alongside a wide range of additional data sources, as well as giving access to tools that can be used to work with the 1000 genomes data and other data sets