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Article

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

American journal of human genetics - 4 Jun 2015

Johnston Jennifer J, Lewis Katie L, Ng David, Singh Larry N, Wynter Jamila, Brewer Carmen, Brooks Brian P, Brownell Isaac, Candotti Fabio, Gonsalves Steven G, Hart Suzanne P, Kong Heidi H, Rother Kristina I, Sokolic Robert, Solomon Benjamin D, Zein Wadih M, Cooper David N, Stenson Peter D, Mullikin James C, Biesecker Leslie G

Abstract excerpt

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...

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Identifiers

PMID: 26046366
DOI: 10.1016/j.ajhg.2015.04.013
PMCID: PMC4457956

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26046366-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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