Genome informatics
GREGoR: accelerating genomics for rare diseases
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Baxter, S. M. et al. Centers for Mendelian Genomics: a decade of facilitating gene discovery. Genet. Med. 24, 784–797 (2022). ...
Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic
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Stratton, M. R., Campbell, P. J. & Futreal, P. A. The cancer genome. Nature 458, 719–724 (2009). Article CAS PubMed ...
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