Article

Genome sequencing as a generic diagnostic strategy for rare disease

2023-09-28

Abstract excerpt

<h4>Background</h4> To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing. A single generic high-throughput workflow would greatly increase efficiency. We assessed whether genome sequencing (GS) can replace these existing workflows aimed at germline genetic diagnosis for rare disease. <h4>Methods</h4> We...

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Literature Corpus work: c5169fe7-1703-544c-b488-964e6409ee98
DOI: 10.1101/2023.09.28.23296271

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