Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Lawrence, Babb"'
Autor:
Robert Dolin, Bret S. E. Heale, Rohan Gupta, Carla Alvarez, Justin Aronson, Aziz Boxwala, Shaileshbhai R. Gothi, Ammar Husami, James Shalaby, Lawrence Babb, Alex Wagner, Srikar Chamala
Publikováno v:
Learning Health Systems, Vol 7, Iss 4, Pp n/a-n/a (2023)
Abstract Introduction Variant annotation is a critical component in next‐generation sequencing, enabling a sequencing lab to comb through a sea of variants in order to hone in on those likely to be most significant, and providing clinicians with ne
Externí odkaz:
https://doaj.org/article/47ebe2ec882044c085f656c5fc83dd54
Autor:
Matthew Wright, Christine Preston, Karen Dalton, Gloria Cheung, Mark Mandell, Bryan Wulf, Lawrence Babb, Marina DiStefano, Steven Harrison, Clarissa Klein, Rachel Shapira, Ingrid Keseler, Deborah Ritter, Neethu Shah, Kevin Riehle, Aleksandar Milosavljevic, Sharon Plon, Teri Klein
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100738- (2023)
Externí odkaz:
https://doaj.org/article/8007ff815c8248d0bd46189da68917a3
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:
Alex H. Wagner, Lawrence Babb, Gil Alterovitz, Michael Baudis, Matthew Brush, Daniel L. Cameron, Melissa Cline, Malachi Griffith, Obi L. Griffith, Sarah E. Hunt, David Kreda, Jennifer M. Lee, Stephanie Li, Javier Lopez, Eric Moyer, Tristan Nelson, Ronak Y. Patel, Kevin Riehle, Peter N. Robinson, Shawn Rynearson, Helen Schuilenburg, Kirill Tsukanov, Brian Walsh, Melissa Konopko, Heidi L. Rehm, Andrew D. Yates, Robert R. Freimuth, Reece K. Hart
Publikováno v:
Cell Genomics, Vol 1, Iss 2, Pp 100027- (2021)
Summary: Maximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report here the Variation Representation Specification (VRS, pronounced “verse”), an ex
Externí odkaz:
https://doaj.org/article/3859bdfa7d3c4f77bb01c6a9ee4f69c7
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:
Wesley Goar, Lawrence Babb, Srikar Chamala, Melissa Cline, Robert R. Freimuth, Reece K. Hart, Kori Kuzma, Jennifer Lee, Tristan Nelson, Andreas Prlić, Kevin Riehle, Anastasia Smith, Kathryn Stahl, Andrew D. Yates, Heidi L. Rehm, Alex H. Wagner
Publikováno v:
Biocomputing 2023.
As the diversity of genomic variation data increases with our growing understanding of the role of variation in health and disease, it is critical to develop standards for precise inter-system exchange of these data for research and clinical applicat
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:
Kori Kuzma, James Stevenson, Jiachen Liu, Adam Coffman, Obi L. Griffith, Malachi Griffith, Jason Walker, Lawrence Babb, Xuelu Liu, Alex Wagner
Publikováno v:
Cancer Genetics. :7-8
Autor:
Lynn S. Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha M. Baxter, Stephanie DiTroia, Emily O'Heir, Eleina England, Katherine R. Chao, Gabrielle Lemire, Ikeoluwa Osei‐Owusu, Grace E. VanNoy, Michael Wilson, Kevin Nguyen, Harindra Arachchi, William Phu, Matthew Solomonson, Stacy Mano, Melanie O'Leary, Alysia Lovgren, Lawrence Babb, Christina A. Austin‐Tse, Heidi L. Rehm, Daniel G. MacArthur, Anne O'Donnell‐Luria
Publikováno v:
Hum Mutat
Exome and genome sequencing have become the tools of choice for rare disease diagnosis, leading to large amounts of data available for analyses. To identify causal variants in these datasets, powerful filtering and decision support tools that can be
Autor:
Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)
PURPOSESeveral groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence base for the role of a ge