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LOW-DEPTH WGS

Whole Genome Sequencing (WGS), even at low depth effectively identifies novel variation. (Martin et al., 2021, Visscher et al., 2017). A human genome sequenced at 0.1x depth using 150 bp reads yields 2.2 million reads corresponding to measurements at 330Mbp. At 0.4x depth, it is expected to have a single sequencing read covering each of around 28 million of the 84.7 million genetic variants identified in the 1000 Genomes Project (Auton et al., 2015), substantially higher than the output by a traditional genotyping array.

 

MAXIMISED SPEED AND THROUGHPUT

COST-EFFECTIVE FOR ROUTINE ANALYSES OR LARGE POPULATION STUDIES.

 

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.