Functional annotation of rare genetic variants

Graham R S Ritchie*, Paul Flicek

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract / Description of output

Genome-wide association studies have successfully identified a growing number of common variants that robustly associate with a wide range of complex diseases and phenotypes. In the majority of cases though, the variants are predicted to have small to modest effect sizes, and, due to the technologies used, many of the signals discovered so far may not be the causal loci. As rare variation studies begin to explore the lower ranges of the allele frequency spectrum, using whole genome or whole exome sequencing to capture a larger proportion of variants, we expect to find variants with a more direct causal role in the phenotype(s) of interest. Interpreting possible functional mechanisms linking variants with phenotypes will become increasingly important.

Original languageEnglish
Title of host publicationAssessing Rare Variation in Complex Traits: Design and Analysis of Genetic Studies
PublisherSpringer New York
Number of pages14
ISBN (Print)9781493928248, 9781493928231
Publication statusPublished - 1 Jan 2015


Dive into the research topics of 'Functional annotation of rare genetic variants'. Together they form a unique fingerprint.

Cite this