Dimitrios Vitsios

The Impact of Non-coding G-quadruplex Variants on Human Traits and Disease Susceptibility

The paper identifies non-coding G-quadruplex variants associated with plasma proteins and clinical traits, showing stronger signals when considering G4 stability impacts and integrating with protein-truncating variants.

Clonal haematopoiesis without identified genetic drivers: insights from analyses of 407,512 individuals

This study identifies 26,963 individuals with clonal haematopoiesis without known genetic drivers (CH-UD) and finds strong genetic and phenotypic links to other forms of clonal haematopoiesis, implicating TCL1A and epigenetic changes.

Diverse ancestral representation improves genetic intolerance metrics

This study shows that genetic diversity improves the performance of intolerance metrics in identifying disease-related genes, with multi-ancestry data outperforming European-only datasets.

Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities

The paper identifies plasma proteomic markers linked to polygenic risk of type 2 diabetes and related comorbidities using proteogenomic data from biobanks and clinical trials.

Genome-wide prediction of dominant and recessive neurodevelopmental disorder risk genes

This paper develops machine learning models to predict neurodevelopmental disorder risk genes using single-cell RNA-seq data and inheritance patterns, achieving high predictive accuracy.

Applying Machine Learning on UK Biobank biomarker data empowers case-control discovery yield

The paper uses machine learning to identify undiagnosed cases in UK Biobank data, improving gene-disease associations and discovering novel relationships.

Genetic architecture of telomere length in 462,675 UK Biobank whole-genome sequences

The paper identifies 53 rare variants and 22 genes associated with telomere length using UK Biobank whole-genome sequences, highlighting their role in clonal haematopoiesis and disease.

Assessing the role of rare pathogenic variants in heart failure progression by exome sequencing in 8,089 patients

This study identifies seven genes associated with heart failure progression using exome sequencing in 8,089 patients and prioritizes them for therapeutic target validation.

A minimal role for synonymous variation in human disease

The paper cautions against interpreting a yeast study claiming synonymous mutations are as disease-causing as nonsynonymous ones, given existing evidence for their predominant neutrality in humans.

Influences of rare protein-coding genetic variants on the human plasma proteome in 50,829 UK Biobank participants

The paper identifies rare protein-coding variants influencing plasma protein levels in 50,829 UK Biobank participants using exome-wide association studies.

Cancer-driving mutations are enriched in genic regions intolerant to germline variation

The paper introduces OncMTR, a metric identifying genic regions intolerant to germline variation but enriched for cancer-driving mutations, and shows it improves genetic signal detection for hematologic malignancies.

Assessing the contribution of rare-to-common protein-coding variants to circulating metabolic biomarker levels via 412,394 UK Biobank exome sequences

The paper assesses the contribution of rare-to-common protein-coding variants to metabolic biomarker levels using UK Biobank exome sequences and identifies novel gene-biomarker relationships.

Human genetic evidence supports MAP3K15 inhibition as a therapeutic strategy for diabetes

The paper identifies MAP3K15 as a protective gene for diabetes through genetic analysis and shows its inhibition could be a therapeutic strategy.

Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participants

This study uses exome sequencing of 177,882 UK Biobank participants to assess the role of rare variants in 10,533 phenotypes, identifying 911 significant gene-phenotype relationships.

Identification of a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

The paper identifies a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis through genome-wide association analysis.

Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

The paper updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.

Stochastic semi-supervised learning to prioritise genes from high-throughput genomic screens

This paper introduces mantis-ml, a stochastic semi-supervised learning framework to prioritize genes from genomic screens by integrating gene annotations, achieving an average AUC of 0.85.