Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations-Reference-Cited by-同舟云学术

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

Published:2024-11 Issue:11 Volume:26 Page:101213
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Stenton Sarah L.,Pejaver Vikas,Bergquist Timothy,Biesecker Leslie G.,Byrne Alicia B.,Nadeau Emily A.W.,Greenblatt Marc S.,Harrison Steven M.,Tavtigian Sean V.,Radivojac Predrag,Brenner Steven E.^ORCID,O’Donnell-Luria Anne^ORCID,Biesecker Leslie G.,Harrison Steven M.,Tayoun Ahmad A.,Berg Jonathan S.,Brenner Steven E.,Cutting Garry R.,Ellard Sian,Greenblatt Marc S.,Kang Peter,Karbassi Izabela,Karchin Rachel,Mester Jessica,O’Donnell-Luria Anne,Pesaran Tina,Plon Sharon E.,Rehm Heidi L.,Strande Natasha T.,Tavtigian Sean V.,Topper Scott

Funder

The Chan Zuckerberg Initiative

National Cancer Institute

National Library of Medicine

Illumina Inc

Boston Children's Hospital The Manton Center for Orphan Disease Research

National Human Genome Research Institute

Publisher

Elsevier BV

Reference18 articles.

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3. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar;Harrison;Genet Med,2017

4. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria;Pejaver;Am J Hum Genet,2022

5. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework;Tavtigian;Genet Med,2018

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