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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. (2024)

First Author: Pagnamenta AT

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/10.1016/j.ajhg.2024.04.018

PubMed Identifier: 38776926

Publication URI: http://europepmc.org/abstract/MED/38776926

Type: Journal Article/Review

Volume: 111

Parent Publication: American journal of human genetics

Issue: 6

ISSN: 0002-9297