BALL-SNP: combining genetic and structural information to identify candidate non-synonymous single nucleotide polymorphisms

BACKGROUND: High-throughput genetic testing is increasingly applied in clinics. Next-Generation Sequencing (NGS) data analysis however still remains a great challenge. The interpretation of pathogenicity of single variants or combinations of variants is crucial to provide accurate diagnostic informa...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Mueller, Sabine C., Backes, Christina, Kalinina, Olga V., Meder, Benjamin, Stöckel, Daniel, Lenhof, Hans-Peter, Meese, Eckart, Keller, Andreas
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4506604/
https://ncbi.nlm.nih.gov/pubmed/26191084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-015-0190-y
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