Image by National Cancer Institute

WHOLE GENOME SEQUENCING (WGS)

Whole Genome Sequencing (WGS) detects the complete genome sequence at one time and provides the most comprehensive collection of an individual’s genetic variation based on the human reference genome. The DNA library is whole genome sequenced (WGS) at a chosen depth based on cost, throughput and data output requirements.

 

UNBIASED

Variants are unascertained, meaning that the quality of data generated is inherently unbiased towards any particular population (Martin et al., 2021, Homburger et al., 2019, Wojcik et al. 2018).

NOVEL VARIANTS

Novel, population-specific variants can be detected. These advantages are especially beneficial in non- White populations because corresponding reference data that support arrays are often lacking (Visscher et al., 2017).

 

GERMLINE VARIANT DETECTION

SOMATIC VARIANT DETECTION

STRUCTURAL VARIANT DISCOVERY

COPY NUMBER VARIATION

 

Homburger, J. R., Neben, C. L., Mishne, G., Zhou, A. Y., Kathiresan, S., & Khera, A. V. (2019). Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores. Genome medicine, 11(1), 1-12. 


Martin, A. R., Atkinson, E. G., Chapman, S. B., Stevenson, A., Stroud, R. E., Abebe, T., ... & NeuroGAP-Psychosis Study Team. (2021). Low-coverage sequencing cost-effectively detects known and novel variations in underrepresented populations. The American Journal of Human Genetics, 108(4), 656-668. 


Visscher, P. M., Wray, N. R., Zhang, Q., Sklar, P., McCarthy, M. I., Brown, M. A., & Yang, J. (2017). 10 years of GWAS discovery: biology, function, and translation. The American Journal of Human Genetics, 101(1), 5-22. 


Wojcik, G. L., Fuchsberger, C., Taliun, D., Welch, R., Martin, A. R., Shringarpure, S., ... & Kenny, E. E. (2018). Imputation- aware tag SNP selection to improve power for large-scale, multi-ethnic association studies. G3: Genes, Genomes, Genetics, 8(10), 3255-3267.