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. |
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| Authors: | Manders TR; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA. toby.manders@labcorp.com., Tan CA; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA., Kobayashi Y; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA., Wahl A; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA., Araya C; Invitae Corporation, 1400 16th Street, San Francisco, CA, 94103, USA.; Tapanti.org, PO Box #727, 836 Anacapa St, Santa Barbara, CA, 93102, USA., Colavin A; Invitae Corporation, 1400 16th Street, San Francisco, CA, 94103, USA.; Present Address: Threshold Health Inc, 1638 Myrtle Ave, San Diego, CA, 92103, USA., Facio FM; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA.; Present Address: GeneDx, 205/207 Perry Parkway, Gaitherburg, MD, 20877, USA., Metz H; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA., Reuter J; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA., Frésard L; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA., Padigepati SR; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA., Stafford DA; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA., Nussbaum RL; Invitae Corporation, 1400 16th Street, San Francisco, CA, 94103, USA.; Present Address: Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, 1825 4th St, San Francisco, CA, 94158, USA., Nykamp K; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA.; Present Address: GeneDx, 205/207 Perry Parkway, Gaitherburg, MD, 20877, USA. |
| Source: | Human genetics [Hum Genet] 2025 Jun; Vol. 144 (6), pp. 605-614. Date of Electronic Publication: 2025 Apr 23. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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