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A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project (2024)

First Author: Seaby E

Attributed to: Artificial intelligence methods applied to Genomic Data for improved health (AGENDA) funded by EPSRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.gim.2024.101073

Publication URI: http://dx.doi.org/10.1016/j.gim.2024.101073

Type: Journal Article/Review

Parent Publication: Genetics in Medicine

Issue: 4