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Establishing a Variant Allele Frequency Cutoff for Manual Curation of Medical Exome Sequencing Data.

The Journal of molecular diagnostics : JMD - 1 Jan 2025

Sears Kate, Hickey Caylin, Vincent Ryan, Stocks-Candelaria Jennifer, Tate Jason, Bumgardner Cody, Zhang Shulin, Miller Justin B

Abstract excerpt

Medical exome sequencing pipelines consist of various preprocessing steps to prioritize credible causal variants before a pathologist or variant curation scientist manually interprets potential findings that are then reported to patients. The variant allele frequency (VAF), reported as the fraction of sequencing reads supporting a variant call, can be used to screen for technical artifacts, yet a specific...

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PMID: 39427756
DOI: 10.1016/j.jmoldx.2024.09.006

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