Zobrazeno 1 - 10
of 42
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
Autor:
Katie L. Lewis, Lori H. Erby, Barbara B. Biesecker, Leslie G. Biesecker, Erin Turbitt, Sandra Epps, Priscilla A. Chan, Grace Ann Fasaye
Publikováno v:
Am J Hum Genet
Genomics researchers are increasingly interested in what constitutes effective engagement of individuals from underrepresented groups. This is critical for longitudinal projects needed to inform the implementation of precision medicine. Return of res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62ed771fbaca5f39aa34dce7e34f905f
https://europepmc.org/articles/PMC8206196/
https://europepmc.org/articles/PMC8206196/
Autor:
Katie L. Lewis, Alexis R Heidlebaugh, Leslie G. Biesecker, David Ng, Ilana M. Miller, Sandra Epps, William M. P. Klein, Paul K. J. Han, Kristen P Fishler, Barbara B. Biesecker, Charlotte L Hepler
Publikováno v:
Genet Med
PURPOSE: Racial minority populations are underrepresented in genomics research. This study enrolled African-descended individuals in a sequencing study and reported their characteristics. METHODS: We purposively recruited 467 individuals self-identif
Publikováno v:
Human Mutation. 39:1525-1530
The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation Working Group set out to refine the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists (ACMG/AMP) variant pathogenicity recommendation
Autor:
Tina Pesaran, Heidi L. Rehm, Marina T. DiStefano, Ahmad N. Abou Tayoun, Leslie G. Biesecker, Steven M. Harrison, Andrea M. Oza
Publikováno v:
Human Mutation. 39:1517-1524
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including a pathogenic criterion (PVS1) for predicted loss of function variants. Howev
Autor:
David E. Gray, Michael O. Dorschner, Matthew S. Lebo, Nikhil Wagle, Ellen A. Tsai, Avni Santani, Heidi L. Rehm, Sean McGee, Mahdi Sarmady, Andrew Dunford, Celine S. Hong, Levi A. Garraway, Kimberly Walker, Deborah A. Nickerson, Carrie Cibulskis, Joshua Sailsbery, David S. Hanna, Dan R. Robinson, Lucia A. Hindorff, Christian J. Buhay, Rashesh Sanghvi, Leslie G. Biesecker, Kevin M. Bowling, Ariella Sasson, Carolyn M. Hutter, Bradford C. Powell, Gregory M. Cooper, Christine Brennan, Donna M. Muzny, Mauricio O. Carneiro, Robert J. Lonigro
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PURPOSE: As massively parallel sequencing is increasingly being used for clinical decision-making, it has become critical to understand parameters that affect sequencing quality and to establish methods for measuring and reporting clinical sequencing
Autor:
Paul P. Liu, Allison Mandich, Chris Gunter, Elise A. Feingold, Adam Felsenfeld, Teri A. Manolio, Valentina Di Francesco, Kris A. Wetterstrand, Daniel L. Kastner, Leslie G. Biesecker, Jyoti G. Dayal, Britny J. Kish, Vence L. Bonham, Anastasia L. Wise, Elaine A. Ostrander, William A. Gahl, Benjamin D. Solomon, Susan Vasquez, William J. Pavan, Laura Lyman Rodriguez, David J. Kaufman, Carla Easter, Lawrence C. Brody, Adam M. Phillippy, Sarah A. Bates, Eric D. Green, Christopher Wellington, Carolyn M. Hutter, Bettie J. Graham, Darryl Leja
Publikováno v:
Nature
Starting with the launch of the Human Genome Project three decades ago, genomics has become progressively entrenched within the bedrock of the biomedical research enterprise. Capitalizing on the momentum of the project’s successful completion in 20
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
Publikováno v:
Curr Protoc Hum Genet
The 2015 ACMG/AMP guidelines established a classification system for sequence variants; however, the broad scope of these guidelines necessitates specification of evidence types for specific genes or diseases of interest. Since publication of the gui