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An integrative approach to predicting the functional effects of non-coding and coding sequence variation

Motivation: Technological advances have enabled the identification of an increasingly large spectrum of single nucleotide variants within the human genome, many of which may be associated with monogenic disease or complex traits. Here, we propose an integrative approach, named FATHMM-MKL, to predict...

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Detalles Bibliográficos
Autores principales: Shihab, Hashem A., Rogers, Mark F., Gough, Julian, Mort, Matthew, Cooper, David N., Day, Ian N. M., Gaunt, Tom R., Campbell, Colin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426838/
https://www.ncbi.nlm.nih.gov/pubmed/25583119
http://dx.doi.org/10.1093/bioinformatics/btv009