Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases

It’s challenging work to identify disease-causing genes from the next-generation sequencing (NGS) data of patients with Mendelian disorders. To improve this situation, researchers have developed many phenotype-driven gene prioritization methods using a patient’s genotype and phenotype information, o...

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Detalles Bibliográficos
Autores principales: Yuan, Xiao, Wang, Jing, Dai, Bing, Sun, Yanfang, Zhang, Keke, Chen, Fangfang, Peng, Qian, Huang, Yixuan, Zhang, Xinlei, Chen, Junru, Xu, Xilin, Chuan, Jun, Mu, Wenbo, Li, Huiyuan, Fang, Ping, Gong, Qiang, Zhang, Peng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Problem Solving Protocol
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8921623/
https://www.ncbi.nlm.nih.gov/pubmed/35134823
http://dx.doi.org/10.1093/bib/bbac019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8921623/
https://www.ncbi.nlm.nih.gov/pubmed/35134823
http://dx.doi.org/10.1093/bib/bbac019

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