Jonathan R. Belyeu

Isocall is a scalable method for joint transcript identification from long-read RNA-seq data, showing high precision and handling large datasets efficiently.

SVTopo visualizes complex structural variants using high-accuracy long reads, providing clear figures to understand multi-breakpoint events in human genomes.

Sawfish improves long-read structural variant calling accuracy by modeling local haplotypes, outperforming existing tools in benchmark tests and joint-genotyping analyses.

The paper introduces a CN caller for KIV-2 repeats using short reads, showing high accuracy and demonstrating its correlation with Lp(a) levels and population-specific CN distributions.

Unfazed detects the parental gamete of origin for de novo mutations using read-based phasing and scales to large datasets.

Samplot creates visualizations for structural variant validation and includes a machine learning tool to reduce false positives across multiple sequencing technologies.

GGD provides a fast, reproducible way to install standardized data recipes for genomics research, addressing challenges in data collection, transformation, and integration.

The paper reports de novo structural mutation rates and gamete-of-origin biases using genome sequencing of 2,396 families, finding higher rates in autism cases and paternal origin dominance.

XPRESSyourself automates and standardizes ribosome profiling analysis, improving reproducibility and enabling new insights into translation regulation.

SV-plaudit enables rapid manual curation of thousands of structural variants through a cloud-based framework with image visualization and collaborative reporting.