DeepPerVar: a multi-modal deep learning framework for functional interpretation of genetic variants in personal genome

Understanding the functional consequence of genetic variants, especially the non-coding ones, is important but particularly challenging. Genome-wide association studies (GWAS) or quantitative trait locus analyses may be subject to limited statistical power and linkage disequilibrium, and thus are le...

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Bibliographic Details

Published in:	Bioinformatics (Oxford, England) Vol. 38; no. 24; pp. 5340 - 5351
Main Authors:	Wang, Ye, Chen, Li
Format:	Journal Article
Language:	English
Published:	England Oxford University Press 13.12.2022
Subjects:	Deep Learning Genome-Wide Association Study Genomics Humans Linkage Disequilibrium Original Paper Polymorphism, Single Nucleotide Quantitative Trait Loci
ISSN:	1367-4803, 1367-4811, 1367-4811
Online Access:	Get full text
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