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Settling the score: variant prioritization and Mendelian disease.

Nature reviews. Genetics - 1 Oct 2017

Eilbeck Karen, Quinlan Aaron, Yandell Mark

Abstract excerpt

When investigating Mendelian disease using exome or genome sequencing, distinguishing disease-causing genetic variants from the multitude of candidate variants is a complex, multidimensional task. Many prioritization tools and online interpretation resources exist, and professional organizations have offered clinical guidelines for review and return of prioritization results. In this Review, we describe the...

Topics

DNA Copy Number Variations
Disease
Genetic Structures
Genetic Variation
Genome, Human
Genome-Wide Association Study
Humans

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 28804138
DOI: 10.1038/nrg.2017.52
PMCID: PMC5935497

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