Settling the score: variant prioritization and Mendelian disease.
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ABSTRACT:
SUBMITTER: Eilbeck K
PROVIDER: S-EPMC5935497 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Publications
Settling the score: variant prioritization and Mendelian disease.
Eilbeck Karen K Quinlan Aaron A Yandell Mark M
Nature reviews. Genetics 20170814 10
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 strengths and weaknesses of widely used computational approaches, explain their roles in ...[more]
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