Steven A. Lubitz

Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with height

Genetics of Myocardial Interstitial Fibrosis in the Human Heart and Association with Disease

The paper uses machine learning to analyze myocardial T1 time in UK Biobank data, identifying genetic loci and pathways associated with interstitial fibrosis and related cardiovascular diseases.

Adjusting for Common Variant Polygenic Scores Improves Yield in Rare Variant Association Analyses

The paper shows adjusting for common variant polygenic scores improves rare variant association yield in 65 UK Biobank traits without increasing false positives.

Common and Rare Variants Associated with Cardiometabolic Traits across 98,622 Whole-Genome Sequences in the All of Us Research Program

The paper analyzes whole-genome sequences from 98,622 participants to identify common and rare variants associated with cardiometabolic traits, replicating known associations and finding new loci.

Clinical and Therapeutic Applications of Individual-level Tissue-Specific Imputed Transcriptomes

The paper imputes tissue-specific gene expression for 486,452 UK Biobank participants and demonstrates its use in prioritizing therapeutic targets and predicting phenotypic risk.

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

The paper performs whole genome sequence analysis of plasma lipid levels in 66,329 individuals, identifying new lipid-associated alleles, including rare non-coding variants.

Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Genes

The paper shows that variant effect sizes on quantitative endophenotypes support pathogenicity in monogenic disease genes.

Genomic and phenomic landscape of clonal hematopoiesis in over a million ancestrally diverse participants

This study analyzes clonal hematopoiesis in over a million diverse individuals, identifying 72 genome-wide significant loci and linking CHIP to various phenotypes.

Genetic Analysis of Right Heart Structure and Function in 40,000 People

The paper uses deep learning and genome-wide association studies to identify genetic loci associated with right heart structure and function in 40,000 individuals.

Cross-Modal Autoencoder Framework Learns Holistic Representations of Cardiovascular State

This paper develops a cross-modal autoencoder framework to integrate cardiac MRI and ECG data, improving phenotype prediction and enabling MRI imputation from ECGs.

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

This study investigates how rare and common genetic variations contribute to QT interval duration, finding that both monogenic and polygenic factors influence QTc prolongation, with polygenic risk modulating the effect of rare variants.

Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank

The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.

Deep learning enables genetic analysis of the human thoracic aorta

This study uses deep learning to analyze aortic dimensions from MRI and identifies genetic loci associated with aortic diameter, highlighting SVIL as a key gene and developing a polygenic score for aneurysm risk.

Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

This paper introduces RUTH, a new HWE test that accounts for population structure and genotype uncertainty, showing it reduces false positives compared to traditional methods.

Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes: Trans-Omics for Precision Medicine (TOPMed) Program

The paper identifies rare non-coding variants from whole genome sequencing in the TOPMed program, showing they contribute significantly to type 2 diabetes heritability.

Genomic evaluation of circulating proteins for drug target characterisation and precision medicine

The paper identifies pQTLs for cardiovascular proteins and uses them to evaluate drug targets and suggest new candidates for precision medicine.

Analysis of cardiac magnetic resonance imaging traits in 29,000 individuals reveals shared genetic basis with dilated cardiomyopathy

This study identifies 26 novel genetic loci associated with cardiac structure and function using MRI data from 29,041 individuals and links them to dilated cardiomyopathy risk.

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

This study uses TOPMed whole genome sequences to improve imputation quality and detect rare variant associations in admixed African and Hispanic/Latino populations, identifying two novel associations with hematological traits.

Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

The paper identifies germline genetic variants associated with clonal hematopoiesis of indeterminate potential (CHIP) using whole genome sequences from the TOPMed program.

Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

The paper assesses if genetic risk for atrial fibrillation explains cardioembolic stroke risk using genome-wide data from the Stroke Genetics Network.

Genome-wide polygenic score to identify a monogenic risk-equivalent for coronary disease

A genome-wide polygenic score identifies individuals with a 4-fold increased risk for coronary disease, similar to a rare monogenic mutation.

Discovering patterns of pleiotropy in genome-wide association studies

This paper introduces SAPPHO methods to detect pleiotropy in GWAS by modeling shared patterns of genetic associations, finding 16 additional and 124 novel loci in meta-analysis.

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

This study identifies 47 novel genetic loci associated with PR interval through genome-wide association meta-analysis across multiple populations.