Large language models assisted multi-effect variants mining on cerebral cavernous malformation familial whole genome sequencing

Large language models assisted multi-effect variants mining on cerebral cavernous malformation familial whole genome sequencing

Cerebral cavernous malformation (CCM) is a polygenic disease with intricate genetic interactions contributing to quantitative pathogenesis across multiple factors. The principal pathogenic genes of CCM, specifically KRIT1, CCM2, and PDCD10, have been reported, accompanied by a growing wealth of gene...

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Bibliographic Details
Main Authors: Yiqi Wang, Jinmei Zuo, Chao Duan, Hao Peng, Jia Huang, Liang Zhao, Li Zhang, Zhiqiang Dong
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Computational and Structural Biotechnology Journal
Subjects:
Whole genome sequencing
Cerebral cavernous malformation
Deep learning
Large language model
Natural language processing
Online Access:http://www.sciencedirect.com/science/article/pii/S200103702400014X

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