Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

Next-generation sequencing provides the opportunity to practice predictive medicine based on identified variants. Putative loss-of-function (pLOF) variants are common in genomes and understanding their contribution to disease is critical for predictive medicine. To this end, we characterized the consequences of pLOF variants in an exome cohort by iterative phenotyping. Exome data were generated on 951 participants from the ClinSeq cohort and filtered for pLOF variants in genes likely to cause a phenotype in heterozygotes.

Source: The American Journal of Human Genetics - June 4, 2015 Category: Genetics & Stem Cells Authors: Jennifer J. Johnston, Katie L. Lewis, David Ng, Larry N. Singh, Jamila Wynter, Carmen Brewer, Brian P. Brooks, Isaac Brownell, Fabio Candotti, Steven G. Gonsalves, Suzanne P. Hart, Heidi H. Kong, Kristina I. Rother, Robert Sokolic, Benjamin D. So Tags: Article Source Type: research