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Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERver

Interpretation of human genomes is a major challenge. We present the Scripps Genome ADVISER (SG-ADVISER) suite, which aims to fill the gap between data generation and genome interpretation by performing holistic, in-depth, annotations and functional predictions on all variant types and effects. The...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS One
Prif Awduron: Pham, Phillip H., Shipman, William J., Erikson, Galina A., Schork, Nicholas J., Torkamani, Ali
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2015
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4338027/
https://ncbi.nlm.nih.gov/pubmed/25706643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0116815
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