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7.2 - Common Variation

from 7 - Genetics

Published online by Cambridge University Press:  08 November 2023

By
James Walters  and
Kimberley Kendall
Edited by
Mary-Ellen Lynall ,
Peter B. Jones  and
Stephen M. Stahl
Mary-Ellen Lynall
Affiliation:
University of Cambridge
Peter B. Jones
Affiliation:
University of Cambridge
Stephen M. Stahl
Affiliation:
University of California, San Diego
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Summary

Advances in the systematic mapping of human genetic variation and high throughput genotyping facilitated the development of genome-wide association studies (GWAS), which typically assess common genetic variants (those present at >1% frequency in the population). Genotyping can be performed either by sequencing to determine each individual’s DNA sequence (see Subsection 7.3.2), or, much more cheaply and rapidly, using array-based technologies (DNA microarrays) to test genetic variation at specific predetermined locations across the genome. In GWAS, hundreds of thousands of single DNA base-pair changes (single-nucleotide polymorphisms (SNPs)) are genotyped throughout the genome using array-based technologies.

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Cambridge Textbook of Neuroscience for Psychiatrists , pp. 329 - 332
Publisher: Cambridge University Press
Print publication year: 2023

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