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Data2Report services involve the handling of complex data sets that are produced by next-generation sequencing technologies. Arcensus offers the necessary expertise in the interpretation of genetic data with computational resources specifically designed to process NGS data on a large scale.
We partner with accredited sequencing facilities and provide access to sophisticated bioinformatics and interpretation services to enable partners to seamlessly translate genetic data into diagnostic reports with actionable clinical insights.
* We continue to enhance our pipeline so we can source various data from different platforms. Please feel free to contact us if your data has different specifications.
| Variant Type | Definition | WES | WGS |
|---|---|---|---|
| Single nucleotide variants (SNVs) | A DNA sequence variant affecting 1 nucleotide | All protein-coding | All |
| Insertion / Deletion (In-dels) | Deletions, insertions, or duplications of DNA segments less than 500bp | All protein-coding | All |
| Copy number variants (CNVs) | Deletions or duplications of DNA segments of at least 500bp | Limited | All |
| Structural variants (SVs) | Insertions of DNA segments of at least 500bp, inversions and translocations (including translocations between nDNA and mtDNA) | Limited | All |
| Repeat expansions | Increase in the number of repeated DNA sequence motifs within a gene | No | Most |
| Chromosomal abnormalities | Monosomy, trisomy, uniparental disomy, triploidy | All | All |
These tests were developed by Arcensus laboratory.