Loukas Moutsianas

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 establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

The paper estimates the frequency of repeat expansion mutations across populations using whole genome sequencing data and finds higher expected prevalence than current reports.

This paper builds a haplotype reference panel from Genomics England data and imputes UK Biobank data, revealing more rare variants and suggesting limitations in detecting rare variant associations with current sample sizes.

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.

This study identifies genetic differences between pediatric and adult cardiomyopathy, finding more constrained variants in childhood cases and female patients.

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 introduces DeNovoLOEUF, a method to identify diagnostic variants in genome sequencing data, achieving 96% positive predictive value and uncovering 39 missed diagnoses in the 100,000 Genomes Project.

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

The paper identifies an intermediate-effect variant in UMOD associated with chronic kidney disease risk and shows it has reduced disease severity compared to canonical ADTKD mutations.

The paper identifies genetic and chemotherapeutic causes of germline hypermutation by analyzing genome-wide sequences of families with rare genetic diseases.

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

The paper identifies gene-specific mutational signatures caused by replication errors and endogenous DNA damage using CRISPR-Cas9 knockouts and whole-genome sequencing.

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

This study identifies HLA-DQA1*05 as a genetic risk factor for anti-drug antibody development in Crohn's disease patients treated with anti-TNF therapies.

This study uses whole genome sequencing to explore the genetic architecture of inflammatory bowel diseases, identifying a risk variant in ADCY7 for ulcerative colitis but finding limited contribution of low-frequency variants to heritability.

This study identifies 26 new genetic loci associated with inflammatory bowel disease, including integrin genes linked to immune activation and disease risk.