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Discovery, genotyping and characterization of structural variation and novel sequence at single nucleotide resolution from de novo genome assemblies on a population scale
BACKGROUND: Comprehensive recognition of genomic variation in one individual is important for understanding disease and developing personalized medication and treatment. Many tools based on DNA re-sequencing exist for identification of single nucleotide polymorphisms, small insertions and deletions...
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| Udgivet i: | Gigascience |
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| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2015
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4690232/ https://ncbi.nlm.nih.gov/pubmed/26705468 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13742-015-0103-4 |
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