Article

Meta-analysis of genome and predicted exome sequencing diagnostic yield

2024-06-13

Abstract excerpt

<title>Abstract</title> <p>This meta-analysis assesses the relative diagnostic yield of genome sequencing (GS) compared to the predicted exome sequencing (ES) yield in patients with suspected Mendelian disorders. Employing the PRISMA guidelines and PICO framework, we conducted a systematic review of studies that used GS in the context of rare disorders. We collected reported diagnostic findings and estimated the...

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Literature Corpus work: 99a4f2d2-0585-5b92-ab95-0f97b86a175b
DOI: 10.21203/rs.3.rs-4465187/v1

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