Cargando…
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...
Autores principales: | Eisfeldt, Jesper, Vezzi, Francesco, Olason, Pall, Nilsson, Daniel, Lindstrand, Anna |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
F1000Research
2017
|
Materias: | |
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 |
Ejemplares similares
-
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants
por: Garcia, Maxime, et al.
Publicado: (2020) -
ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets
por: Pope, Bernard J, et al.
Publicado: (2014) -
pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing
por: Thutkawkorapin, Jessada, et al.
Publicado: (2020) -
Loqusdb: added value of an observations database of local genomic variation
por: Magnusson, Måns, et al.
Publicado: (2020) -
UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing
por: Park, Daniel J., et al.
Publicado: (2016)