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… (More)
DOI: 10.1016/j.ajhg.2015.04.013


Cite this paper

@article{Johnston2015IndividualizedIP, title={Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.}, author={Jennifer J Johnston and Katie L Lewis and David Ng and Larry N. Singh and Jamila S Wynter and Carmen Brewer and Brian P. Brooks and Isaac Brownell and Fabio Candotti and Steven G Gonsalves and Suzanne P Hart and Heidi H Kong and Kristina I Rother and Robert A Sokolic and Benjamin D Solomon and Brian P Brooks and David N. Cooper and Peter D. Stenson and May Christine V Malicdan and Leslie G. Biesecker}, journal={American journal of human genetics}, year={2015}, volume={96 6}, pages={913-25} }