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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| Main Authors: | , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
01 July 2015
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| 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 |
| 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
BioMed Central 2015
Article (Journal)
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