Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed...
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource
About this item
Full title
Author / Creator
Strande, Natasha T , Erin Rooney Riggs , Buchanan, Adam H , Ceyhan-Birsoy, Ozge , Distefano, Marina T , Dwight, Selina S , Goldstein, Jennifer L , Ghosh, Rajarshi , Seifert, Bryce A , Sneddon, Tam P , Wright, Matt W , Milko, Laura V , Cherry, J Michael , Giovanni, Monica A , Murray, Michael F , O'daniel, Julianne M , Ramos, Erin M , Santani, Avni B , Scott, Alan F , Plon, Sharon E , Rehm, Heidi L , Martin, Christa Lese and Berg, Jonathan S
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
Formats
Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Subjects
More information
Scope and Contents
Contents
With advances in genomic sequencing technology, the number of reported gene-disease relationships has rapidly expanded. However, the evidence supporting these claims varies widely, confounding accurate evaluation of genomic variation in a clinical setting. Despite the critical need to differentiate clinically valid relationships from less well-subs...
Alternative Titles
Full title
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource
Authors, Artists and Contributors
Author / Creator
Erin Rooney Riggs
Buchanan, Adam H
Ceyhan-Birsoy, Ozge
Distefano, Marina T
Dwight, Selina S
Goldstein, Jennifer L
Ghosh, Rajarshi
Seifert, Bryce A
Sneddon, Tam P
Wright, Matt W
Milko, Laura V
Cherry, J Michael
Giovanni, Monica A
Murray, Michael F
O'daniel, Julianne M
Ramos, Erin M
Santani, Avni B
Scott, Alan F
Plon, Sharon E
Rehm, Heidi L
Martin, Christa Lese
Berg, Jonathan S
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2070368391
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2070368391
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/111039
How to access this item
https://www.proquest.com/docview/2070368391?pq-origsite=primo&accountid=13902
