Athanasios Kousathanas

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.

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.

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

The paper introduces a Bayesian model, BayesRR-RC, to infer the genetic architecture of complex traits and finds that most genetic variance is attributed to non-proximal regulatory and coding regions.

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

This paper introduces BayesW, a Bayesian method for analyzing time-to-event phenotypes, showing improved statistical power and prediction accuracy for age-at-onset traits in large-scale datasets.

This study identifies 13 genome-wide significant loci associated with SARS-CoV-2 infection or severe COVID-19 through a global meta-analysis of 49,562 patients.

This study identifies genetic and epigenetic factors associated with inflammatory protein levels in older adults using GWAS and EWAS with a Bayesian framework.

ATLAS, a C++ toolkit that models post-mortem damage when genotyping ancient or low-depth BAM data, avoided GATK's reference bias and made fewer errors at higher depth in simulations.

This paper introduces a method to infer heterozygosity from low coverage genomes, showing it can accurately estimate diversity in ancient samples.

This study shows early European farmers descended directly from Neolithic Aegeans, linking Mediterranean and Central European farmers to southwestern Asia.