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TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data
Reliable detection of large structural variation ( > 1000 bp) is important in both rare and common genetic disorders. Whole genome sequencing (WGS) is a technology that may be used to identify a large proportion of the genomic structural variants (SVs) in an individual in a single experiment. Eve...
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| Publié dans: | F1000Res |
|---|---|
| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
F1000Research
2017
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5521161/ https://ncbi.nlm.nih.gov/pubmed/28781756 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.11168.2 |
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