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SV-STAT accurately detects structural variation via alignment to reference-based assemblies
BACKGROUND: Genomic deletions, inversions, and other rearrangements known collectively as structural variations (SVs) are implicated in many human disorders. Technologies for sequencing DNA provide a potentially rich source of information in which to detect breakpoints of structural variations at ba...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4913042/ https://www.ncbi.nlm.nih.gov/pubmed/27330550 http://dx.doi.org/10.1186/s13029-016-0051-0 |