Lecture 5 - Online Resources Pt1 Flashcards
What is the aim of the 1000 human genomes project?
To find most genetic variants w frequencies of at least 1% in populations studied
How were genomes sequenced in the 1000 human genomes project?
Through high-throughput parallel sequencing
There were 3 major findings from the 1000 human genomes project. What is the 1st major finding?
Individuals from different populations carry different profiles of rare and common variants
There were 3 major findings from the 100 human genomes project. What is the 2nd major finding?
Rare variants were found substantially more in certain geographical locations
There were 3 major findings from the 100 human genomes project. What is the 3rd major finding?
On average, each person carries around 250-300 loss of function variants in annotated genes and 50-100 variants previously implicated in inherited disorders
What is Ensembl?
A genome browser where 1000 genome project data can be viewed
What is Ensembl GRCh38?
It allows the view of the 1000 genomes project data on current human reference genome
How are SNPs categorized in Ensembl?
Every SNP has a RS number associated with it
For example, what is rs1333049 associated with?
With heart disease, in particular, CAD