Archives

Systematic application of ClinGen InSiGHT APC-specific ACMG/AMP variant classification criteria alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases

Date:

Monday, Jun 3, 2024 3:45pm – 4:45pm

Conference:

ESHG 2024

Authors:

Alexandra Martins, Andreas Laner, Andrew Latchford, Carli Tops, Carlo Maj, Deborah Ritter, Elisabet Ognedal, Emadeldin Hassanin, Emily Nadeau, Ester Borras, Finlay A Macrae, Gabriel Capellá, Ian M Frayling, Isabel Spier, Johan de Dunnen, Karl Krahn, Khalid Mahmood, Lyman Lin, Marc S Greenblatt, Marcy E. Richardson, Margareta Nordling, Marta Pineda, Maurizio Genuardi, Sean V. Tavtigian, Sharon E. Plon, Stefan Aretz, Thomas v O Hansen, Tina Pesaran, MA, MS, CGC, Valeria Vasta, Victoria Beshay, Xiaoyu Yin, Xuemei Shi

Collaborators:

ClinGen

Creating an open-source gene curation database from the Gene Curation Coalition (GenCC)

Oncology

Date:

Wednesday, Mar 18, 2020 10:00am – 12:00pm

Conference:

ACMG 2020

Authors:

Ada Hamosh, Alison Coffey, Annie Olry, Antoine Marmignon, Carol Bocchini, Caroline Wright, Charlotte Rodwell, Christa L. Martin, Christina Austin-Tse, David Fitzpatrick, Eleanor Williams, Ellen M. McDonagh, Elspeth Bruford, Erin M. Ramos, Erin Rooney Riggs, Ewan Birney, Fiona Cunningham, Heather Collins, Heidi L. Rehm, Helen Firth, Ivone U.S. Leong, Jackie Tahiliani, James S. Ware, Jenny Goldstein, Joanna Amberger, Jonathan S. Berg, Kalotina Machini, Kelly Radtke, Louise C. Daugherty, Marie Balzotti, Marina T. DiStefano, Matthew Hurles, Ozge Ceyhan-Birsoy, Paul Denny, Rebecca E. Foulger, Sarah E. Leigh, Zornitza Stark

Collaborators:

Australian Genomics

Baylor Charles A. Sammons Cancer Center

ClinGen

European Molecular Biology Laboratory, European Bioinformatics Institute

Genetics Home Reference, National Library of Medicine

Genomics England

ICF

Illumina Clinical Services Laboratory

Inserm

National Heart and Lung Institute & MRC London Institute of Medical Sciences, Imperial College London

National Human Genome Research Institute

Online Mendelian Inheritance in Man (OMIM)

Partners Healthcare Laboratory for Molecular Medicine

Royal Brompton & Harefield Hospitals NHS Trust

Abstract Poster

Developing optimized ACMG-AMP criteria for classification of variants in TP53

Oncology

Session:

#38

Date:

Thursday, Jun 29, 2017 12:00pm – 12:00pm

Conference:

—

Authors:

Amanda Spurdle, Bing-Jian Feng, Chimene Kesserwan, Cristiana Fortuno, David E. Goldgar, Gareth Evans, Jeffrey Bissonnette, Jessica Mester, Kelly McGoldrick, Kristy Lee, Laura Attardi, Liying Zhang, Magali Olivier, Maria Isabel Achatz, Megan Frone, Paul James, Phuong Mai, Rebecca Bassett, Robert Huether, Sharisse Jimenez, Sharon Plon, Sharon Savage, Shuwei Li, Thomas P. Slavin, Tina Pesaran, MA, MS, CGC

Collaborators:

ClinGen

ENIGMA

Poster

Optimization of the ACMG-AMP Criteria for CDH1 Variant Classification.

Oncology

Session:

#20

Date:

Thursday, Jun 29, 2017 12:00pm – 12:00pm

Conference:

—

Authors:

Amanda Spurdle, Carla Oliveira, David Huntsman, Elizabeth Chao, Fatima Carneiro, Intan Schrader, Joana Figueiredo, Kate Krempely, Keith Nykamp, Kristy Lee, Liying Zhang, Maegan Roberts, Pardeep Kaurah, Rachid Karam, PhD, Rajarshi Ghosh, Sean Tavtigian, Sharon E. Plon, Thomas Slavin, Tina Pesaran, MA, MS, CGC, Yuya Kobayashi

Collaborators:

Baylor College of Medicine

ClinGen

ENIGMA

Memorial Sloan Kettering Cancer Center

University of California, Irvine

Poster