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Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project (2023)

First Author: Moore A

Attributed to: Identifying New Disease Genes & Mechanisms for Musculoskeletal Disorders in 100K Genomes Project using Bioinformatics, Phenotyping & Machine Learning funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1136/jmg-2023-109362

PubMed Identifier: 37558402

Publication URI: http://europepmc.org/abstract/MED/37558402

Type: Journal Article/Review

Parent Publication: Journal of Medical Genetics

Issue: 12

ISSN: 0022-2593