Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Leslie G. Biesecker"'
Autor:
Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2019)
Genome Medicine
Genome Medicine
Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evidence codes
Autor:
Stephen G. Gonsalves, Robert T. Dirksen, Philip M. Hopkins, Richa Saxena, Leslie G. Biesecker, James L. Weber, Kathryn M. Stowell, Nyamkhishig Sambuughin, Sheila Riazi, Thierry Girard, Henry Rosenberg, Jennifer J. Johnston, Louis A. Saddic
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose As a ClinGen Expert Panel (EP) we set out to adapt the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) pathogenicity criteria for classification of RYR1 variants as related to autosomal domin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bed287e0c2262ad26677ba75142cf389
Publikováno v:
Hum Mutat
Recently, we demonstrated that the qualitative American College of Medical Genetics and Genomics/Association for Medical Pathology (ACMG/AMP) guidelines for evaluation of Mendelian disease gene variants are fundamentally compatible with a quantitativ
Autor:
Robert L. Nussbaum, Kenneth M. Boucher, Snehit Prabhu, Marc S. Greenblatt, Steven M. Harrison, Sean V. Tavtigian, Leslie G. Biesecker
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose We evaluated the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity guidelines for internal consistency and compatibility with Bayesian statistical reasoning. Methods The ACM
Autor:
Hatice Ozel Abaan, Lori L. Bonnycastle, Nisc Comparative Sequencing Program, Francis S. Collins, Jamie K. Teer, Natsuyo Aoyama, Leslie G. Biesecker, Eric D. Green, Peter S. Chines, Amy J. Swift, Elliott H. Margulies, Thomas J. Albert, Nancy F. Hansen, James C. Mullikin
Publikováno v:
Genome Research. 20:1420-1431
Massively parallel DNA sequencing technologies have greatly increased our ability to generate large amounts of sequencing data at a rapid pace. Several methods have been developed to enrich for genomic regions of interest for targeted sequencing. We