Genomics Biotech Services What are these?
1. DNA Sequencing Services
DNA sequencing services involve analyzing sequence data of genes linked to cardiology, immunology, ophthalmology, nephrology, pulmonology, urology, gastroenterology, metabolic, hematology, oncology and endocrinology.
- Software-based quality analysis of DNA sequencing results (software: SeqScape, Sequence Scanner)
- Documentation of sequencing results of patients/subjects in Quality Analysis Reports; generation of genetic testing reports
- Identifying and providing nomenclature of variants, and associating variants with clinical significance scores based on mutational database
- Identifying and calculating insertion/deletion variants in sequenced genes
2. Variant Science Services
Variant science work includes determining a patient’s variants and evaluating the predisposition of genotype in relation to phenotype.
- Curating genetic variants and related information from biomedical journals for use in database applications – Variants are curated and annotated according to Human Genome Variation Society (HGVS) nomenclature. This process includes:
- Extracting articles that describe variants from online sources such as Scholar Google, Google, Pub Med
- Reading the articles and manually listing all genetic variants and related information
- Deriving the standard nomenclature of genetic variants according to HGVS