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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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Materias: | |
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 |
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