Author

Chloe Mighton

h-index 17 View on Semantic Scholar

We have 2 of 97 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

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. · PLoS ONE · 0 citations

Open access Sep 2026

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

RGP demonstrates that a research-based, patient-driven remote sequencing study can effectively bridge a diagnostic gap for rare disease families underserved in current clinical care and underscores the clinical utility of GS with frequent re-analysis.

A. O'Donnell-Luria, Stephanie P. DiTroia, Melanie C. O'Leary et al. · medRxiv · 0 citations