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MissenseHMM: state-based annotations for missense variants through joint modeling of pathogenicity scores.

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Zenodo2026-08-14 更新2026-08-20 收录
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MissenseHMM: state-based annotations for missense variants through joint modeling of pathogenicity scores. This repository contains the v1 annotations trained from dbNSFP v5.0 on GRCh38. Pre-print: https://doi.org/10.64898/2026.01.31.703062. Source code can also be found at: https://github.com/ernstlab/MissenseHMM We note that some of the scores that are input to MissenseHMM and the dbNSFP database processing from which MissenseHMM annotations were derived restrict commercial applications without a license. For more information please refer to https://www.dbnsfp.org/license/.

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Zenodo
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2026-06-24
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