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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Emmanuèle C. Délot

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Open access Sep 2026

Yield of Long-Read Genome Sequencing for Rare Disease Diagnosis in Short-Read Genome Negative Cases

Background A growing body of work has highlighted advantages of long-read genome sequencing (LR-GS) over short-read genome sequencing (SR-GS) with regards to the detection and interpretation of pathogenic variants. However, the incremental diagnostic yield of LR-GS over SR-GS for patients with suspected Mendelian condi...

Georgia Pitsava, Krista K. Bluske, Rebekah Barrick et al. · 0 citations
Open access Sep 2026

Leveraging Long-Read Sequencing to Bridge the Diagnostic and Equity Gaps in Differences of Sex Development (DSD).

Congenital Adrenal Hyperplasia (CAH) can result from variants in several genes but is most frequently caused by deletions and gene conversions in the segmentally duplicated RCCX module, which contains the CYP21A2 gene and its pseudogene. Current genetic tests vary greatly by laboratory, method, and consequently diagnos...

Emmanuèle C. Délot, Eric Vilain · 0 citations

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