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Author

B. Thiruvahindrapuram

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Open access Oct 2026

The revised diploid genome sequence of an individual human: A workflow for near telomere-to-telomere assemblies using only Oxford Nanopore Technologies Simplex-reads.

The first draft diploid genome assembly (HuRef) of an individual in 2007 was a milestone in genomics. Here, we report HuRef2.0, a revision of HuRef assembled using only Oxford Nanopore Technologies (ONT) Simplex-reads and the hifiasm assembler. Results are close in continuity to the telomere-to-telomere (T2T) assemblie...

S. Lok, Timothy N. H. Lau, A. H. Y. Tong et al. · 0 citations
Open access Sep 2026

The spectrum of copy number variation in the Pan-Canadian HostSeq databank

The integration of copy number variant (CNV) workflows into genome sequencing (GS) analysis pipelines allows for the identification of CNVs implicated in disease. Here, we generated a novel resource of CNVs identified in the HostSeq population cohort from Canada, identified the prevalence of recurrent CNVs associated w...

Navneet Aujla, B. Thiruvahindrapuram, S. Casalino et al. · 0 citations
Open access Aug 2026

Determinants of functional burden pleiotropy and gene dosage responses across human traits

Pleiotropic and monotonic effects of gene dosage are central to understanding comorbidities in developmental pediatric and psychiatric disorders, yet the underlying biological processes are not well characterized. Here we develop a functional burden analysis to investigate the association of all protein-coding copy-num...

Sayeh Kazem, Kuldeep Kumar, J. Yang et al. · 0 citations
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. · 0 citations
Open access Sep 2026

Contribution of copy number variants to schizophrenia in East Asian populations

A significantly elevated genome-wide rare CNV burden in EAS cases compared with controls is observed, underscoring the importance of increasing population diversity to fully capture the genetic underpinnings of schizophrenia.

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

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