Information Technology Support for Clinical Genetic Testing within an Academic Medical Center

by Samuel Aronson, Lisa Mahanta, Lei Lei Ros, Eugene Clark, Lawrence Babb, Michael Oates, Heidi Rehm, Matthew Lebo
Published 2016-01-01

Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR‐formatted genomic variants

by 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
Published 2023-10-01

P673: Batch ClinVar submission support in ClinGen’s Variant Curation Interface (VCI)

by 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
Published 2023-01-01

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

by 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
Published 2021-11-01

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

by 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)
Published 2022-01-01

Information Technology Support for Clinical Genetic Testing within an Academic Medical Center

by Aronson, Samuel, Mahanta, Lisa, Ros, Lei Lei, Clark, Eugene, Babb, Lawrence, Oates, Michael, Rehm, Heidi, Lebo, Matthew
Published 2016