Article

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

2020-08-14

Abstract excerpt

<h4>ABSTRACT</h4> 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 establish recommendations for rare disease research, we derive effective guidelines for variant filtering...

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Literature Corpus work: a7b097c9-b9de-5fc7-9925-c3b8d191b318
DOI: 10.1101/2020.08.13.249532

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