Article

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

2023-10-23

Abstract excerpt

We report the diagnostic results of a comprehensive copy number variant (CNV) reanalysis of 9,171 exome sequencing (ES) datasets from 5,757 families, including 6,143 individuals affected by a rare disease (RD). The data analysed was extremely heterogeneous, having been generated using 28 different exome enrichment kits, and sequenced on multiple short-read sequencing platforms, by 42 different research groups acro...

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Literature Corpus work: 1c6e520b-eb97-5843-b8ec-932f803bf28f
DOI: 10.1101/2023.10.22.23296993

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