Matthew A. Richardson

The paper introduces a data model and dataset for rare disease research, enabling interoperable multi-omic data integration across clinical sites.

MitoScope is a long-read sequencing workflow for mitochondrial genome analysis that improves sensitivity and precision in variant detection and NUMT profiling.

This study benchmarks donor-specific assemblies for improved detection of somatic structural variants in a melanoma cell line, finding they identify more variants, especially in repeat-rich regions.

The paper identifies genetic variants in South African children with developmental and epileptic encephalopathies and proposes a 'Think-Genetics' strategy for early genetic diagnosis in resource-limited settings.