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Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference.

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Title: Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference.
Authors: Manders, Toby R.1 (AUTHOR) toby.manders@labcorp.com, Tan, Christopher A.1 (AUTHOR), Kobayashi, Yuya1 (AUTHOR), Wahl, Alexander1 (AUTHOR), Araya, Carlos2,3 (AUTHOR), Colavin, Alexandre2,4 (AUTHOR), Facio, Flavia M.1,5 (AUTHOR), Metz, Hillery1 (AUTHOR), Reuter, Jason1 (AUTHOR), Frésard, Laure1 (AUTHOR), Padigepati, Samskruthi R.1 (AUTHOR), Stafford, David A.1 (AUTHOR), Nussbaum, Robert L.2,6 (AUTHOR), Nykamp, Keith1,5 (AUTHOR)
Source: Human Genetics. Jun2025, Vol. 144 Issue 6, p605-614. 10p.
Database: Academic Search Ultimate
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Description
ISSN:03406717
DOI:10.1007/s00439-025-02743-z