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Global inference of disease-causing single nucleotide variants from exome sequencing data
BACKGROUND: Whole exome sequencing (WES) has recently emerged as an effective approach for identifying genetic variants underlying human diseases. However, considerable time and labour is needed for careful investigation of candidate variants. Although filtration based on population frequencies and...
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| Publicado no: | BMC Bioinformatics |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5260102/ https://ncbi.nlm.nih.gov/pubmed/28155632 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-016-1325-x |
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