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
Reference22 articles.
1. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield;Ankala;Ann Neurol,2015
2. Molecular findings among patients referred for clinical whole-exome sequencing;Yang;JAMA,2014
3. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders;Taylor;Nat Genet,2015
4. The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities;Chong;Am J Hum Genet,2015
5. ClinVar: public archive of interpretations of clinically relevant variants;Landrum;Nucleic Acids Res,2016
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