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Paper Details

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
NPJ Genom Med
58
2020
Medical Genome, WGS, genetic disorders, germline, germline disease, patients
Author NameAffiliation
Christian R MarshallThe Hospital for Sick Children
Eric W KleeMayo Clinic
Eric W KleeMayo Clinic
Pengfei LiuBaylor Genetics and Baylor College of Medicine
Elizabeth A WortheyHudsonAlpha Institute for Biotechnology
Elizabeth A WortheyPresent Address: Center for Genomic Data Sciences, University of Alabama at Birmingham
Elizabeth A WortheyHudsonAlpha Institute for Biotechnology
Elizabeth A WortheyPresent Address: Center for Genomic Data Sciences, University of Alabama at Birmingham
David DimmockRady Children's Institute for Genomic Medicine
David BickHudsonAlpha Institute for Biotechnology
David BickHudsonAlpha Institute for Biotechnology
Shashikant KulkarniBaylor Genetics and Baylor College of Medicine
Shashikant KulkarniBaylor College of Medicine
John W BelmontIllumina Inc.
Niall J LennonBroad Institute of MIT and Harvard
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