Gencove at ESHG 2018: replacing genotyping with low-pass sequencing for pharmacogenomics research
Published in
1 min readJun 25, 2018
On June 17th, at the European Society of Human Genetics conference in Milan, Gencove’s CEO Joe Pickrell presented results of a study conducted with researchers at GlaxoSmithKline plc (GSK) comparing the performance of low-pass sequencing and genotyping arrays for pharmacogenomics.
The study compared sequencing at different depths to the Affymetrix Axiom Biobank Precision Medicine Research Array (PMRA), a commonly-used genotyping array. The results showed high concordance between the platforms and increased imputation r² at common variants from low-pass sequencing ranging from 0.9 (from 0.4x sequencing) up to 0.95 (from 1x sequencing).
See the presentation of the results here:
