Article

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

2023-08-13

Abstract excerpt

<h4>Background</h4> Causal variants underlying rare disorders may remain elusive even after expansive gene panels or exome sequencing (ES). Clinicians and researchers may then turn to genome sequencing (GS), though the added value of this technique and its optimal use remain poorly defined. We therefore investigated the advantages of GS within a phenotypically diverse cohort. <h4>Methods</h4> GS was performed for...

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Literature Corpus work: f7169f63-6105-5c88-8d6a-d29e6afe6e5f
DOI: 10.1101/2023.08.08.23293829

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