Lecture 5 - Online Resources Pt1 Flashcards

1
Q

What is the aim of the 1000 human genomes project?

A

To find most genetic variants w frequencies of at least 1% in populations studied

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2
Q

How were genomes sequenced in the 1000 human genomes project?

A

Through high-throughput parallel sequencing

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3
Q

There were 3 major findings from the 1000 human genomes project. What is the 1st major finding?

A

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

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4
Q

There were 3 major findings from the 100 human genomes project. What is the 2nd major finding?

A

Rare variants were found substantially more in certain geographical locations

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5
Q

There were 3 major findings from the 100 human genomes project. What is the 3rd major finding?

A

On average, each person carries around 250-300 loss of function variants in annotated genes and 50-100 variants previously implicated in inherited disorders

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6
Q

What is Ensembl?

A

A genome browser where 1000 genome project data can be viewed

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7
Q

What is Ensembl GRCh38?

A

It allows the view of the 1000 genomes project data on current human reference genome

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8
Q

How are SNPs categorized in Ensembl?

A

Every SNP has a RS number associated with it

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9
Q

For example, what is rs1333049 associated with?

A

With heart disease, in particular, CAD

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