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Paper Details

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
Am J Hum Genet
139
2018
1,996 genes, Atherosclerosis, Mendelian diseases, Mutant Transcripts, NMD, PTC, PTCs, PTVs, Premature termination codon, alleles, candidate genes, dominant diseases, protein-truncating variants, transcripts
Author NameAffiliation
Zeynep Coban AkdemirBaylor College of Medicine
Shalini N JhangianiBaylor College of Medicine
Tomasz GambinInstitute of Computer Science, Warsaw University of Technology
Eric BoerwinkleBaylor College of Medicine, University of Texas Health Science Center at Houston
Eric BoerwinkleBaylor College of Medicine, University of Texas Health Science Center at Houston
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Tuuli LappalainenColumbia University
Tuuli LappalainenColumbia University
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
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Datasets

Dataset
Description
Source Link
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Release 1.2