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

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 information or guid...

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Bibliographic Details
Main Authors: Müller, Sabine C. (Author) , Meder, Benjamin (Author)
Format: Article (Journal)
Language:English
Published: 01 July 2015
In: Genome medicine
Year: 2015, Volume: 7
ISSN:1756-994X
DOI:10.1186/s13073-015-0190-y
Online Access:Verlag, Volltext: https://doi.org/10.1186/s13073-015-0190-y
Verlag, Volltext: https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-015-0190-y
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Author Notes:Sabine C. Mueller, Christina Backes, Olga V. Kalinina, Benjamin Meder, Daniel Stöckel, Hans-Peter Lenhof, Eckart Meese and Andreas Keller
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BALL-SNP: combining genetic and structural information to identify candidate non-synonymous single nucleotide polymorphisms by Müller, Sabine C. (Author) , Meder, Benjamin (Author) ,

BioMed Central 2015

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