Article

Minimum genomic data sets for rare diseases: A systematic review

2026-02-17

Abstract excerpt

<title>Abstract</title> <p>Background Minimum data sets (MDS) are used to harmonize the capture and exchange of rare-disease information across studies and care settings, but the genomic component of these frameworks is often inconsistently specified. In our sample of included studies (n = 23), only 2 explicitly reported using Whole-Exome Sequencing (WES) or Whole-Genome Sequencing (WGS), highlighting a persiste...

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Literature Corpus work: 6935808a-57bd-550d-853d-bf48fb54cc6e
DOI: 10.21203/rs.3.rs-8204628/v1

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