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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Detalles Bibliográficos
Autores principales: Eisfeldt, Jesper, Vezzi, Francesco, Olason, Pall, Nilsson, Daniel, Lindstrand, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2017
Materias:
Software Tool Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521161/
https://www.ncbi.nlm.nih.gov/pubmed/28781756
http://dx.doi.org/10.12688/f1000research.11168.2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521161/
https://www.ncbi.nlm.nih.gov/pubmed/28781756
http://dx.doi.org/10.12688/f1000research.11168.2

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