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The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis
- Source :
- F1000Research
- Publication Year :
- 2018
- Publisher :
- F1000 Research Ltd, 2018.
-
Abstract
- To provide a useful community resource for orthogonal assessment of NGS analysis software, we present the ICR142 NGS validation series. The dataset includes high-quality exome sequence data from 142 samples together with Sanger sequence data at 730 sites; 409 sites with variants and 321 sites at which variants were called by an NGS analysis tool, but no variant is present in the corresponding Sanger sequence. The dataset includes 286 indel variants and 275 negative indel sites, and thus the ICR142 validation dataset is of particular utility in evaluating indel calling performance. The FASTQ files and Sanger sequence results can be accessed in the European Genome-phenome Archive under the accession number EGAS00001001332.
- Subjects :
- 0301 basic medicine
FASTQ format
Computational biology
Biology
Bioinformatics
Data Note
DNA sequencing
General Biochemistry, Genetics and Molecular Biology
03 medical and health sciences
symbols.namesake
Variant calling
General Pharmacology, Toxicology and Pharmaceutics
Indel
Exome
Sanger sequencing
validation
Series (mathematics)
General Immunology and Microbiology
Resource (Windows)
Articles
Genomics
General Medicine
Accession number (bioinformatics)
030104 developmental biology
indel
NGS
symbols
next-generation sequencing
exome
Subjects
Details
- ISSN :
- 20461402
- Volume :
- 5
- Database :
- OpenAIRE
- Journal :
- F1000Research
- Accession number :
- edsair.doi.dedup.....d10c0554bc5d3ba6adc504b41098438c