Author

S. W. Scherer

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Open access Aug 2026

Benchmarking of Oxford Nanopore whole genome sequencing for germline variant and CpG methylation detection across Canada’s national platform for genome sequencing and analysis

Advances in sequencing technology have enabled population-level Whole Genome Sequencing (WGS) efforts to be undertaken in many countries. Often, this requires collaboration across a distributed network of sequencing centres to allow efficient use of existing resources. Previously we tested the robustness of short-read...

J. H. Gálvez, S. Mastromatteo, Kieran O’Neill et al. · Frontiers in Genetics · 0 citations

Open access Sep 2026

Contribution of copy number variants to schizophrenia in East Asian populations.

Studies on schizophrenia-associated rare copy number variants (CNVs) have predominantly focused on people of European (EUR) ancestry. Here we present a rare CNV study of schizophrenia in East Asian (EAS) populations, comprising 20,903 cases and 23,258 controls. We observed a significantly elevated genome-wide rare CNV...

Yu Chen, Qi-Di Feng, Max Lam et al. · Nature Genetics · 0 citations