Genotyping at Source BioScience

The average difference between any two human genomes is small, probably less than 0.1%. The genotyping differences are made up of variations in individual nucleotides (SNPs), insertions and deletions of single and multiple nucleotides (INDELS), or larger variations, where whole sections of the genome are repeated (CNV; copy number variation). However, while most are relatively small, these differences are ultimately responsible for our individual physical characteristics or traits (phenotype). Perhaps more importantly, they also contribute to our individual risk of developing diseases and our response to their treatment. Genotyping in large-scale genome-wide association studies (GWAS) helps to identify associations between such genetic variations or sets of variations and characteristic traits. While these associations are often weak, when examined in sufficiently large populations they take on greater significance and can assist in predicting disease risk or response to treatment, in an individual or a population.

A variety of genes, known to demonstrate such variations, determine how our bodies handle drugs (pharmacokinetics) and how our tissues respond to those drugs (pharmacodynamics). More detailed, high-resolution genotyping makes possible the identification of candidate genes impacting drug response, as well as the screening and selection of patients suitable for drug trials.

Source BioScience has been providing microarray technology for genotyping and GWAS studies for almost two decades. For pharmacogenomic investigations, Source is pleased to offer Affymetrix DMET Plus microarray analysis, providing highly multiplexed, comprehensive genotyping of known polymorphisms in absorption, distribution, metabolism, and elimination (ADME)-related genes. For broader exploration of drug response, and where the response phenotype may be complex and poorly understood, we also offer whole genome genotyping arrays from Affymetrix and Illumina, capable of interrogating up to almost 2 million markers per sample.

Next Generation Sequencing (NGS) offers an alternative approach to genotyping and WGAS, providing a high-resolution view of all 3.2 billion nucleotides of the human genome in a single run. Using our Illumina NovaSeq 6000, Source can carry out Whole Genome Sequencing quickly and accurately, sequencing multiple samples to at least 30x coverage in 2 days.

Small scale projects involving single genes, or full genome analysis, are all within our capabilities. We will tailor the technology used to provide you with the most cost-effective way to achieve your goal, without loss of scientific accuracy. When single or small numbers of SNPS are to be interrogated, we might well recommend Sanger sequencing or TaqMan real-time PCR. Where more information is required, and more SNPs questioned, microarray technology or Next Generation Sequencing (NGS) may be more appropriate.

NGS is increasingly recognised as a fast, cost-effective and comprehensive way to explore the genome for those rare variants, at the same time as interrogating better characterised regions.  Source BioScience offers a range of NGS platforms to suit your requirements as well as a comprehensive and dedicated Bioinformatics service to make sense of your genomic data.

Contact us for more details or if you would like us to help you with your projects.