Author

Sarah L. Stenton

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Open access Oct 2026

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

Abstract INTRODUCTION Despite major advances in genomic sequencing and analytical pipelines for rare disorders, more than 50% of affected individuals remain without a molecular diagnosis. One challenge is the interpretation of inherited variants exhibiting incomplete penetrance (IP). MATERIALS AND METHODS We developed...

M. Singh, S. Stenton, E. Groopman et al. · medRxiv · 0 citations

Open access Sep 2026

Yield of Long-Read Genome Sequencing for Rare Disease Diagnosis in Short-Read Genome Negative Cases

Background A growing body of work has highlighted advantages of long-read genome sequencing (LR-GS) over short-read genome sequencing (SR-GS) with regards to the detection and interpretation of pathogenic variants. However, the incremental diagnostic yield of LR-GS over SR-GS for patients with suspected Mendelian condi...

Georgia Pitsava, Krista K. Bluske, Rebekah Barrick et al. · medRxiv · 0 citations

Open access Sep 2026

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

Many individuals with rare monogenic disease remain molecularly undiagnosed due to challenges accessing genetic testing, ambiguity in interpretation of uncertain variants, and latency between novel disease-gene discovery and adoption into clinical pipelines. The Rare Genomes Project (RGP) provides a remote, research-ba...

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