Article

Determinants of DNA-sequence-based Diagnostic Yield in the CSER Consortium

2026-04-22

Abstract excerpt

<h4>Purpose</h4> Diagnostic yield from exome and genome sequencing varies widely across studies. It remains unclear how much of this variation reflects patient-level factors (e.g., sex, clinical features, race/ethnicity, genetic ancestry) versus site-level practices such as sequencing modality or variant interpretation workflows. We aimed to quantify the contributions of these factors to diagnostic outcomes acros...

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Literature Corpus work: 1911331f-9fc0-5fbc-9ad0-1cdc22faf323
DOI: 10.64898/2026.04.20.26351140

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