Test data for sv-callers workflow
收藏资源简介:
This distribution includes data analyzed by the sv-callers workflow (v1.1.0) in the single-sample (germline) and paired-sample (somatic) modes: human reference genomes (in .fa[sta]) excluded genomic regions (in .bed[pe]) ENCODE:ENCFF001TDO CEPH by Layer et al. (2014) structural variants (SVs) detected by the workflow (in .vcf) SV truth sets (in .bed[pe] and .vcf.gz) Personalis/1000 Genomes Project data by Parikh et al. (2016) PacBio/Moleculo data by Layer et al. (2014) dbVar:nstd167 data by Wenger et al. (2019) dbVar:nstd137 data by Huddleston et al. (2017) workflow samples (in .csv) and config files (in .yaml) short-read alignments are not included due to large sizes but are freely available for download (in .bam) NA12878 sample NA24385 sample CHM1_CHM13 sample COLO829 tumor sample with matched normal sample Jupyter Notebooks to analyze SV callsets (in .ipynb)



