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Method: A formal perturbation equation between genotype and phenotype determines the Evolutionary Action of protein-coding variations on fitness
- Panagiotis Katsonis and
- Olivier Lichtarge
Genome Res. December 2014 24: 2050-2058; Published in Advance September 12, 2014, doi:10.1101/gr.176214.114
...function (Chun and Fay 2009; Hicks et al. 2011). In parallel, a large body of theory models the spread and fixation of mutations (Orr 2005), their distribution for various population sizes and fitness effects (Eyre-Walker and Keightley 2007), and whether selection or drift dominates their fate (Nei 2007...
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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
...selected examples of ML- or AI-based applications in noninvasive prenatal testing and cancer liquid biopsy. These applications include the deduction of fetal DNA fraction, plasma DNA tissue mapping, and cancer detection and localization. Finally, we offer perspectives on the future direction of using ML...
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