13: Personal genomics

Question 1

What are the tools available for genomic re-sequencing?

Answer 1

Genomic resequencing can be achieved using..

• Shotgun sequencing
• Pyrosequencing

Question 2

What is the purpose of GWAS?

Answer 2

GWAS can be used to find markers/genes associated with a disease.

Question 3

What is the purpose of Sanger sequencing?

Answer 3

Sanger sequencing is an incredibly accurate if expensive method that can be used to find the reference genome for a species. Used in the human genome project (1990-2003).

Question 4

What are SNPs and how are they used in personal genomics?

Answer 4

A single nucleotide polymorphism, or SNP (pronounced “snip”), is a variation at a single position in a DNA sequence among individuals.

If a SNP occurs within a gene, then the gene is described as having more than one allele. In these cases, SNPs may lead to variations in the amino acid sequence. SNPs, however, are not just associated with genes; they can also occur in noncoding regions of DNA.

SNPs (single nucleotide markers) are the most common genetic markers, occuring every 300 bps or so, are polymorphic, and are compared in GWAS in terms of their possible relationship to diseases.
- To get a good coverage of the whole genome, about 300,000 SNPs are studied per individual.

Basically just points of difference that help compare genetic differences.