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Author

Maahil Arshad

2 papers indexed here

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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

Long-read proteogenomic atlas of human neuronal differentiation reveals isoform diversity informing neurodevelopmental risk mechanisms

Deep long-read RNA sequencing and proteomics in induced pluripotent stem cell-derived cortical neurons is integrated to generate a high-resolution proteogenomic atlas of human neuron development, uncovering thousands of novel isoforms and revealing dynamic splicing changes in autism risk genes.

N. Xu, Katherine M. Rynard, E. Radley et al. · 1 citation

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