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Improving transparency of computational tools for variant effect prediction

Authors :
Karchin, Rachel
Radivojac, Predrag
O’Donnell-Luria, Anne
Greenblatt, Marc S.
Tolstorukov, Michael Y.
Sonkin, Dmitriy
Source :
Nature Genetics; 20240101, Issue: Preprints p1-3, 3p
Publication Year :
2024

Abstract

Efforts to integrate computational tools for variant effect prediction into the process of clinical decision-making are in progress. However, for such efforts to succeed and help to provide more informed clinical decisions, it is necessary to enhance transparency and address the current limitations of computational predictors.

Details

Language :
English
ISSN :
10614036 and 15461718
Issue :
Preprints
Database :
Supplemental Index
Journal :
Nature Genetics
Publication Type :
Periodical
Accession number :
ejs66823950
Full Text :
https://doi.org/10.1038/s41588-024-01821-8