Systematic reanalysis of genomic data improves quality of variant interpretation
Author:
Affiliation:
1. HudsonAlpha Institute for Biotechnology; Huntsville Alabama
2. University of Alabama at Birmingham; Birmingham Alabama
3. University of Louisville; Louisville Kentucky
Funder
National Human Genome Research Institute
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13259/fullpdf
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5. ClinVar: public archive of interpretations of clinically relevant variants;Landrum;Nucleic Acids Res,2016
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