diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype

SUMMARY: The next-generation sequencing brought opportunities for the diagnosis of genetic disorders due to its high-throughput capabilities. However, the majority of existing methods were limited to only sequencing candidate variants, and the process of linking these variants to a diagnosis of gene...

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Detalles Bibliográficos
Autores principales: Huang, Daoyi, Jiang, Jianping, Zhao, Tingting, Wu, Shengnan, Li, Pin, Lyu, Yongfen, Feng, Jincai, Wei, Mingyue, Zhu, Zhixing, Gu, Jianlei, Ren, Yongyong, Yu, Guangjun, Lu, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Applications Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10500091/
https://www.ncbi.nlm.nih.gov/pubmed/37647638
http://dx.doi.org/10.1093/bioinformatics/btad517

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10500091/
https://www.ncbi.nlm.nih.gov/pubmed/37647638
http://dx.doi.org/10.1093/bioinformatics/btad517

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