Article

A clinical laboratory's experience using GeneMatcher -- building stronger gene-disease relationships.

2021-10-10

Abstract excerpt

The use of whole-genome sequencing (WGS) has accelerated the pace of gene discovery and highlighted the need for open and collaborative data sharing in the search for novel disease genes and variants. GeneMatcher (GM) is designed to facilitate connections between researchers, clinicians, health-care providers and others to help in the identification of additional patients with variants in the same candidate diseas...

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Literature Corpus work: 82e5c771-5d67-544a-8d0e-0a3018ac96cb
DOI: 10.22541/au.163387201.11553050/v1

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