FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screening

Clicks: 163
ID: 260835
2020
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Abstract
As whole-genome data become available for increasing numbers of individuals across diverse populations, the list of genomic variants of unknown significance (VOUS) continues to grow. One powerful tool in VOUS interpretation is determining whether an allele is too common to be considered pathogenic. …
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rl2020humanfreqmax Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Subaran RL;Stewart WCL;;
Journal human mutation
Year 2020
DOI
DOI not found
URL
http://www.ncbi.nlm.nih.gov/pubmed/33032373
Keywords
National Center for Biotechnology Information NCBI NLM MEDLINE pubmed abstract nih national institutes of health national library of medicine pmid:33032373 doi:10.1002/humu.24123 ryan l subaran william c l stewart

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