Effective variant filtering and expected candidate variant yield in studies of rare human disease

Effective variant filtering and expected candidate variant yield in studies of rare human disease

Abstract In studies of families with rare disease, it is common to screen for de novo mutations, as well as recessive or dominant variants that explain the phenotype. However, the filtering strategies and software used to prioritize high-confidence variants vary from study to study. In an effort to...

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Bibliographic Details
Main Authors: Brent S. Pedersen, Joe M. Brown, Harriet Dashnow, Amelia D. Wallace, Matt Velinder, Martin Tristani-Firouzi, Joshua D. Schiffman, Tatiana Tvrdik, Rong Mao, D. Hunter Best, Pinar Bayrak-Toydemir, Aaron R. Quinlan
Format: article
Language:EN
Published: Nature Portfolio 2021
Subjects:
Medicine
R
Genetics
QH426-470
Online Access:https://doaj.org/article/709f6f141917434d9d3529666fde6ab7
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https://doaj.org/article/709f6f141917434d9d3529666fde6ab7

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