Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress

Lyon, Gholson J., Wang, Kai (2012) Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress. Genome Medicine, 4 (7). p. 58. ISSN 1756-994X (Electronic)

[thumbnail of paper]
Preview
PDF (paper)
Lyon GJ Genome Medicine 2012.pdf - Published Version

Download (722kB) | Preview
URL: http://www.ncbi.nlm.nih.gov/pubmed/22830651
DOI: 10.1186/gm359

Abstract

ABSTRACT: The pace of exome and genome sequencing is accelerating, with the identification of many new disease-causing mutations in research settings, and it is likely that whole exome or genome sequencing could have a major impact in the clinical arena in the relatively near future. However, the human genomics community is currently facing several challenges, including phenotyping, sample collection, sequencing strategies, bioinformatics analysis, biological validation of variant function, clinical interpretation and validity of variant data, and delivery of genomic information to various constituents. Here we review these challenges and summarize the bottlenecks for the clinical application of exome and genome sequencing, and we discuss ways for moving the field forward. In particular, we urge the need for clinical-grade sample collection, high-quality sequencing data acquisition, digitalized phenotyping, rigorous generation of variant calls, and comprehensive functional annotation of variants. Additionally, we suggest that a 'networking of science' model that encourages much more collaboration and online sharing of medical history, genomic data and biological knowledge, including among research participants and consumers/patients, will help establish causation and penetrance for disease causal variants and genes. As we enter this new era of genomic medicine, we envision that consumer-driven and consumer-oriented efforts will take center stage, thus allowing insights from the human genome project to translate directly back into individualized medicine.

Item Type: Paper
Subjects: bioinformatics
bioinformatics > genomics and proteomics
CSHL Authors:
Communities: CSHL labs > Lyon lab
Depositing User: Matt Covey
Date: 2012
Date Deposited: 10 Dec 2012 20:04
Last Modified: 01 Feb 2017 17:54
PMCID: PMC3580414
URI: https://repository.cshl.edu/id/eprint/26307

Actions (login required)

Administrator's edit/view item Administrator's edit/view item
CSHL HomeAbout CSHLResearchEducationNews & FeaturesCampus & Public EventsCareersGiving