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Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk

A key challenge for human genetics, precision medicine, and evolutionary biology is deciphering the regulatory code of gene expression, including understanding the transcriptional effects of genome variation. Yet this is extremely difficult due to the enormous scale of the noncoding mutation space....

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Detalles Bibliográficos
Autores principales: Zhou, Jian, Theesfeld, Chandra L., Yao, Kevin, Chen, Kathleen M., Wong, Aaron K., Troyanskaya, Olga G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094955/
https://www.ncbi.nlm.nih.gov/pubmed/30013180
http://dx.doi.org/10.1038/s41588-018-0160-6