Genotyping – variant analysis or mutation analysis – analyzes DNA and compares this to a reference to find variations or mutations. These can be small Insertions or Deletions (InDels), Single Nucleotide Polymorphism (SNP), structural variations, copy number variation (CNV) and more. SNP genotyping is a form of genotyping and measures the genetic variations SNPs. We offer high-throughput genotyping using DNA Microarrays (Illumina Infinium or Affymetrix Axiom), and sequencing-based SNP discovery.
There are many methods for genetic variant analysis, of which we offer: SNP Discovery (sequencing-based), catalogue and custom genotyping. Using Next Generation Sequencing (NGS) is a completely different approach than microarray hybridization. Contact us for free and unbiased project consultancy.
- Custom genotyping
- Axiom technology of Affymetrix
- Infinium iSelect technology of Illumina
- Catalog genotyping
- Off-the-shelf genotyping using Affymetrix' Axiom technology
- Off-the-shelf Infinium BeadChips of Illumina
- Sequencing-based genotyping
- Illumina's HiSeq 2500
- Illumina's NextSeq 500
- PacBio RS II
Genotyping by Sequencing
NGS technology enables genome or exome exome analysis by resequencing the DNA. Comparing the DNA to a reference genome, results in mutation analysis. Our bioinformatics developed a standardized and validated proprietary pipeline called “variant calling” for small variant analysis. Our complete resequencing service includes: library preparation and validation, sequencing run, NGS data quality control, filtering of the data and reporting all quality and variants in VCF files (Variant Call Format).
Hybridization to DNA microarrays is a good cost-effective way to perform SNP genotyping. The Affymetrix Axiom And Illumina Infinium technology platforms we offer are both developed to interrogate SNPs by hybridizing complementary DNA probes to the site of the SNP.
Both SNP array platforms offer the ability to make your own custom SNP genotyping array for screening large sample sets, and have pre-defined genotyping panels available for different areas of interest.