Joseph Brown

STRling detects short tandem repeat expansions at known and novel loci using k-mer counting, achieving high sensitivity and base pair accuracy.

The paper establishes variant filtering guidelines for rare disease studies and estimates candidate variant yields for different inheritance modes using slivar software.

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.

Somalier estimates sample relatedness and detects swaps in cancer and germline studies using efficient genome sketches without requiring germline variant calls.

ATLAS is a Snakemake workflow for processing metagenome data to assemble, annotate, and bin sequences into genomes and functional annotations.