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Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease
The increasing size and complexity of exome/genome sequencing data requires new tools for clinical geneticists to discover disease-causing variants. Bottlenecks in identifying the causative variation include poor cross-sample querying, constantly changing functional annotation and not considering ex...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580443/ https://www.ncbi.nlm.nih.gov/pubmed/23013645 http://dx.doi.org/10.1186/gm374 |