David Bentley

A dedicated caller for DUX4 rearrangements from whole-genome sequencing data

The paper introduces a software tool to detect DUX4 rearrangements from whole-genome sequencing data, showing it can identify known and previously unidentified cases in a cohort of paediatric ALL patients.

Cyrius: accurate CYP2D6 genotyping using whole genome sequencing data

Cyrius accurately genotypes CYP2D6 using whole-genome sequencing data, outperforming existing methods and improving accuracy to 99.3%.

ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data

ExpansionHunter Denovo detects known and novel repeat expansions in short-read sequencing data without requiring predefined repeat catalogs.

Paragraph: A graph-based structural variant genotyper for short-read sequence data

Paragraph is a graph-based structural variant genotyper for short-read data that outperforms existing methods in accuracy across diverse samples.

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

ExpansionHunter is a tool for accurately genotyping short tandem repeats, particularly in complex regions with adjacent variants or imperfect repeats.

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

This study evaluates copy number variant detection in clinical whole genome sequencing, finding it as sensitive as microarrays with additional variants, and identifies clinically significant CNVs in 15% of cases.

Detection of long repeat expansions from PCR-free whole-genome sequence data

The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.