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Mini-Review: The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases
- Giulia F. Del Gobbo and
- Kym M. Boycott
Genome Res. April 2025 35: 559-571; Published in Advance February 3, 2025, doi:10.1101/gr.279970.124
...assess sequence variants (single nucleotide variants [SNVs] or insertions/deletions <50 bp), with the added ability to detect certain copy number variants and some structural variants (SVs, genomic alterations >50 bp in size). Since its more widespread adoption, -wide SRS, primarily SR-ES, has emerged...
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Review: Artificial intelligence and machine learning in cell-free-DNA-based diagnostics
- W.H. Adrian Tsui,
- Spencer C. Ding,
- Peiyong Jiang,
- and Y.M. Dennis Lo
Genome Res. January 2025 35: 1-19; doi:10.1101/gr.278413.123
...), especially in the prenatal screening of fetal chromosomal aneuploidies (Chiu et al. 2008, 2011). Subsequently, the identification of donor-derived DNA in the plasma of organ transplant recipients (Lo et al. 1998a) has sparked interest in noninvasive approaches for monitoring organ rejection (De Vlaminck et...
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