The average difference between any two human genomes is small, probably less than 0.1%. These differences can include variations in individual nucleotides (SNPs) as well as insertions and deletions of single and multiple nucleotides, and larger variations, where sections of the genome are repeated (copy number variation).
While relatively small, however, these variations can ultimately be responsible for our individual physical characteristics or traits (phenotype) and, perhaps more importantly, the risk or predisposition to developing diseases. Genome-wide association studies (GWAS) are designed to identify associations between such genetic variations or sets of variations and characteristic traits and have been instrumental in the identification of thousands of genetic loci associated with disease biomarkers, disease predictors, causal mechanisms of disease, and potential biological targets in drug discovery[1].
Recent advances in sequencing technology and the availability of phased haplotype reference panels such as HapMap[2] have given rise to rare variant association studies (RVASs) for the identification of rare and low-frequency variants of complex traits[3].
Medilink EM Patron Source BioScience has been providing microarray technology for genotyping and GWAS studies for almost two decades. Source has the capacity for large-scale projects and can offer genome-wide analysis based on Affymetrix and Illumina chips. The most comprehensive chips will interrogate up to almost 2 million markers per sample.
Next-generation sequencing (NGS) offers an alternative approach to genotyping and GWAS, providing a high-resolution view of all 3.2 billion nucleotides of the human genome in a single run. Using it’s Illumina NovaSeq 6000, Source BioScience can carry out whole genome sequencing quickly and accurately, sequencing multiple samples to at least 30x coverage in 2 days.
To request more information on how Source BioScience can assist with genotyping requirements, click here
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[1] Tam, V., et al. Benefits and limitations of genome-wide association studies. Nat Rev Genet 20, 467–484 (2019)
[2] International HapMap Consortium. The International HapMap Project. Nature. 2003;426:789–96.
[3] Bomba, L., et al. The impact of rare and low-frequency genetic variants in common disease. Genome Biol 18, 77 (2017)
