Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Matt W. Wright"'
Autor:
Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L. Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo Lopez Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina DiStefano, Julianne M. O’Daniel, Kristy Lee, Erin R. Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah I. Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. Costa, on behalf of the Clinical Genome Resource (ClinGen)
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)
Abstract Background Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible compre
Externí odkaz:
https://doaj.org/article/c5ae77d69fae41bca5be493d02302150
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)
Abstract 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 evide
Externí odkaz:
https://doaj.org/article/4407a9ebc41048f29d3325398d3b8d31
Autor:
Nie, Allen, Pineda, Arturo L., Wand, Matt W. Wright Hannah, Wulf, Bryan, Costa, Helio A., Patel, Ronak Y., Bustamante, Carlos D., Zou, James
As genetic sequencing costs decrease, the lack of clinical interpretation of variants has become the bottleneck in using genetics data. A major rate limiting step in clinical interpretation is the manual curation of evidence in the genetic literature
Externí odkaz:
http://arxiv.org/abs/1909.10699
Autor:
Karen P, Dalton, Heidi L, Rehm, Matt W, Wright, Mark E, Mandell, Kilannin, Krysiak, Lawrence, Babb, Kevin, Riehle, Tristan, Nelson, Alex H, Wagner
Publikováno v:
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing. 28
The Clinical Genome Resource (ClinGen) serves as an authoritative resource on the clinical relevance of genes and variants. In order to support our curation activities and to disseminate our findings to the community, we have developed a Data Platfor
Autor:
Karen P. Dalton, Heidi L. Rehm, Matt W. Wright, Mark E. Mandell, Kilannin Krysiak, Lawrence Babb, Kevin Riehle, Tristan Nelson, Alex H. Wagner
Publikováno v:
Biocomputing 2023.
Autor:
Allen, Nie, Arturo L, Pineda, Matt W, Wright, Hannah, Wand, Bryan, Wulf, Helio A, Costa, Ronak Y, Patel, Carlos D, Bustamante, James, Zou
Publikováno v:
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
As genetic sequencing costs decrease, the lack of clinical interpretation of variants has become the bottleneck in using genetics data. A major rate limiting step in clinical interpretation is the manual curation of evidence in the genetic literature