Matthew Arthur Brown

This study examines ancestry-related differences in variant prioritisation and diagnostic outcomes in the UK 100,000 Genomes Project, finding disparities in positive predictive value and variant of uncertain significance frequencies across groups.

The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

GenePy identifies potential missed biallelic diagnoses in the 100KGP by scoring variants and analyzing phenotypic overlaps, finding 14% of undiagnosed participants may have a missed diagnosis.

The paper introduces MuAt, a deep learning model that learns representations of somatic mutations to predict tumour types and subtypes with high accuracy.

This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.

The paper identifies novel Mendelian genes by analyzing mouse embryo lethality and linking them to human disease phenotypes and genetic variants.

The paper investigates a genotype by sex interaction in Ankylosing Spondylitis risk, showing it is driven by HLA-B rather than MICA variation.

The paper identifies a germline ERBB3 mutation in a family with hereditary non-small cell lung cancer, showing it drives oncogenesis through altered signaling.

The paper investigates how a polymorphism in a RUNX3 enhancer affects TF binding in CD8+ T-cells, linking it to ankylosing spondylitis risk.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

The paper identifies a novel gain-of-function mutation in KCNK16 causing MODY by impairing Ca2+ influx and glucose-stimulated insulin secretion.

A rare SMAD9 mutation is linked to high bone mass, suggesting the BMP pathway as a potential osteoanabolic target.

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.

This study identifies transcriptomic biomarkers in CD4+ and CD8+ T cells from GCA patients over 12 months, revealing gene-phenotype associations and potential prognostic indicators.

This study identifies 114 genome-wide significant loci for schizophrenia and bipolar disorder, with specific subphenotype associations and four genes distinguishing the disorders.