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

Author

Chang-Rui Xiao

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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 Aug 2026

Systems genetics approaches model the heritable architecture of polyendocrine metabolic ovarian syndrome.

It is shown that increased ovarian area contributes to both PMOS susceptibility and ovarian cancer progression, while specific ovary-heart signaling circuits modulate cardiac function with aging, and SF3B1-mediated splicing is uncovered as a link between ovary function and systemic metabolism.

Christy M. Nguyen, L. Velez, Youngseo Cheon et al. · 0 citations

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