Article

Evaluating Genome Sequencing Strategies: Trio, Singleton, and Standard Testing in Rare Disease Diagnosis

2024-12-21

Abstract excerpt

<h4>Purpose</h4> Short-read genome sequencing (GS) is a comprehensive genetic testing method capable of detecting multiple variant types. Despite its technical advantages, systemic comparisons of singleton GS (sGS), trio GS (tGS), and exome sequencing-based standard-of-care (SoC) in real-world diagnostics remain limited. <h4>Methods</h4> We systematically compared sGS, tGS, and SoC genetic testing in 448 patients...

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Literature Corpus work: 35a64d6b-b6b9-5046-a61c-1411abd79b94
DOI: 10.1101/2024.12.20.24319228

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