Author

J. LoTempio

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#protein folding Open access Oct 2026

Integrating sequence-to-omics predictions and personal multi-omics for rare variant prioritization

Sequence-to-omics (S2O) predictions and molecular outliers provide complementary evidence to prioritize functional rare variants and facilitate rare disease diagnoses. However, current approaches do not integrate both lines of evidence. We present Watershed-DL, a framework that integrates S2O predictions of variant eff...

J. Lake, E. Robb, V. Rosa 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

Review Open access Jul 2026

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

This represents the most comprehensive characterization to date of TRND, a novel neurodevelopmental disorder, defining its genotypic and phenotypic spectrum.

Sally Nijim, Mimi Kim, Melissa Denish et al. · Genetics in Medicine · 1 citation