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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 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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  Data: Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference.
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  Data: <searchLink fieldCode="AU" term="%22Manders+TR%22">Manders TR</searchLink>; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA. toby.manders@labcorp.com.<br /><searchLink fieldCode="AU" term="%22Tan+CA%22">Tan CA</searchLink>; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA.<br /><searchLink fieldCode="AU" term="%22Kobayashi+Y%22">Kobayashi Y</searchLink>; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA.<br /><searchLink fieldCode="AU" term="%22Wahl+A%22">Wahl A</searchLink>; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA.<br /><searchLink fieldCode="AU" term="%22Araya+C%22">Araya C</searchLink>; Invitae Corporation, 1400 16th Street, San Francisco, CA, 94103, USA.; Tapanti.org, PO Box #727, 836 Anacapa St, Santa Barbara, CA, 93102, USA.<br /><searchLink fieldCode="AU" term="%22Colavin+A%22">Colavin A</searchLink>; Invitae Corporation, 1400 16th Street, San Francisco, CA, 94103, USA.; Present Address: Threshold Health Inc, 1638 Myrtle Ave, San Diego, CA, 92103, USA.<br /><searchLink fieldCode="AU" term="%22Facio+FM%22">Facio FM</searchLink>; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA.; Present Address: GeneDx, 205/207 Perry Parkway, Gaitherburg, MD, 20877, USA.<br /><searchLink fieldCode="AU" term="%22Metz+H%22">Metz H</searchLink>; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA.<br /><searchLink fieldCode="AU" term="%22Reuter+J%22">Reuter J</searchLink>; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA.<br /><searchLink fieldCode="AU" term="%22Frésard+L%22">Frésard L</searchLink>; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA.<br /><searchLink fieldCode="AU" term="%22Padigepati+SR%22">Padigepati SR</searchLink>; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA.<br /><searchLink fieldCode="AU" term="%22Stafford+DA%22">Stafford DA</searchLink>; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA.<br /><searchLink fieldCode="AU" term="%22Nussbaum+RL%22">Nussbaum RL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Nykamp+K%22">Nykamp K</searchLink>; Labcorp Genetics Inc, 1400 16th Street, San Francisco, CA, 94103, USA.; Present Address: GeneDx, 205/207 Perry Parkway, Gaitherburg, MD, 20877, USA.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s00439-025-02743-z
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              Text: 2025 Jun
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