Published September 13, 2022
| Version v1
Dataset
Open
Twist Whole-Exome Sequencing Dataset - High Coverage - WGGC SIG4 Benchmarking
Authors/Creators
- 1. Core Unit for Bioinformatics Data Analysis, Medical Faculty, University of Bonn, Venusberg-Campus 1, 53127 Bonn, Germany
Contributors
Contact person:
Hosting institution (4):
Project manager:
- 1. Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
- 2. Core Unit for Bioinformatics Data Analysis, Medical Faculty, University of Bonn, Venusberg-Campus 1, 53127 Bonn, Germany
- 3. Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany
Description
GIAB Reference Genome for Benchmarking Initiatives in the West German Genome Center (WGGC) - SIG4.
Twist Whole-Exome Sequencing Dataset - High Coverage - 200M Reads.
Files
md5sum.txt
Additional details
Related works
- Is cited by
- 10.1038/sdata.2016.25 (DOI)
- 10.1038/s41587-019-0054-x (DOI)
- 10.1038/s41587-021-01158-1 (DOI)
- Is referenced by
- https://www.nist.gov/programs-projects/genome-bottle (URL)
References
- Krusche, P., Trigg, L., Boutros, P.C. et al. Best practices for benchmarking germline small-variant calls in human genomes. Nat Biotechnol 37, 555–560 (2019)
- Zook, J., Catoe, D., McDaniel, J. et al. Extensive sequencing of seven human genomes to characterize benchmark reference materials. Sci Data 3, 160025 (2016)
- Wagner, J., Olson, N.D., Harris, L. et al. Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol 40, 672–680 (2022)