Article

Estimating diagnostic noise in panel-based genomic analysis

2022-03-21

Abstract excerpt

<h4>Background</h4> Gene panels with a series of strict variant filtering rules are often used for clinical analysis of exomes and genomes. Panels vary in size, which affects the sensitivity and specificity of the test. We sought to investigate the background rate of candidate diagnostic variants in a population setting using gene panels developed to diagnose a range of heterogeneous monogenic diseases. <h4>Method...

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Literature Corpus work: 5ae3e347-1b34-572e-95d7-d532e95bbf08
DOI: 10.1101/2022.03.18.22272595

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