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Paper Details

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Nucleic Acids Res
94
2017
CNV, CNVs, HMZ, HMZ deletions, HMZDelFinder, Mendelian disease, disease gene, intragenic, multi-exonic, single-exon deletion CNVs, single-exon deletions
Author NameAffiliation
Tomasz GambinBaylor College of Medicine
Tomasz GambinInstitute of Computer Science, Warsaw University of Technology
Zeynep Coban AkdemirBaylor College of Medicine
Shalini N JhangianiBaylor College of Medicine
Shalini N JhangianiBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
John W BelmontBaylor College of Medicine
Eric BoerwinkleBaylor College of Medicine
Eric BoerwinkleUniversity of Texas Health Science Center at Houston
Eric BoerwinkleBaylor College of Medicine
Eric BoerwinkleUniversity of Texas Health Science Center at Houston
Arthur L BeaudetBaylor College of Medicine
Arthur L BeaudetBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
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