Abstract
The study of rare variants holds the promise of accounting for some of the missing heritability in complex traits. Next-generation sequencing technologies enable probing of variation across the full spectrum of allele frequencies. Multiple methods for the analysis of rare variants have been proposed and, recently, Ionita-Laza et al. have presented an approach with the theoretical capacity to detect risk and protective variants. The identification of rare risk variants could have major implications in understanding complex disease etiopathogenesis.
Highlights
The study of rare variants holds the promise of accounting for some of the missing heritability in complex traits
Single-variant association tests have been successful in detecting disease-associated common variants, but such tests have been shown to be sensitive to both allele frequency and effect size, so that they are underpowered in analyzing rare variants [3,4]
In a recent PLoS Genetics publication, Ionita-Laza et al [6] introduced a testing approach, referred to as a replication-based strategy that is less sensitive to the presence of both risk and protective variants in the region
Summary
The study of rare variants holds the promise of accounting for some of the missing heritability in complex traits. Rare variants have been shown to play an important role in complex disease etiology [1,2]. *Corresponding author: Jennifer Asimit ja11@sanger.ac.uk Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1HH, UK
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
