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Next‐generation sequencing and the evolution of data sharing
Author(s) -
Sobreira Nara Lygia,
Hamosh Ada
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62239
Subject(s) - identification (biology) , phenotype , data sharing , gene , disease , computational biology , biology , dna sequencing , genetics , data science , computer science , medicine , botany , alternative medicine , pathology
Disease gene identification often relies on identifying multiple affected individuals with similar phenotypes and candidate variants in the same gene. Phenotypic and genomic data sharing tools have facilitated connections that led to novel disease gene discoveries and better characterization and recognition of rare diseases. Additionally, data sharing has evolved. From gene‐based matches to variant‐level information with increasing use of phenotypic information. We expect that these initiatives will continue to expand in the future affording clinicians, researchers, and most importantly, patients and their families faster and more comprehensive answers.