Ravi Mandla

Large-scale admixture mapping in the All of Us Research Program improves the characterization of cross-population phenotypic differences

The paper uses admixture mapping in the All of Us Research Program to identify genetic ancestry associations with 22 traits, finding 71 novel loci where African ancestry explains phenotypic variation.

A unified framework for local-ancestry-aware genetic association analysis across biobanks

FELIX improves genetic association analysis by accounting for local ancestry in admixed populations, increasing significant loci and improving polygenic score prediction.

Evaluation of the genome-informed risk assessment (GIRA) approach from eMERGE in an independent health system

This study evaluates the GIRA approach in a health system, finding 30.4% of patients labeled high-risk based on genomic data, with ancestry differences and social deprivation influences.

Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries.

This paper develops and validates multi-ancestry polygenic risk scores for type 2 diabetes prediction and complications across diverse populations.

CalPred yields calibrated intervals for polygenic risk prediction

CalPred provides well-calibrated prediction intervals for polygenic risk scores, maintaining calibration across different contextual factors unlike other methods.

Associations of Combined Genetic and Lifestyle Risks with Incident Type 2 Diabetes in the UK Biobank

This study examines how genetic and lifestyle factors together influence the risk of developing type 2 diabetes in the UK Biobank population.

Statistical uncertainty explains the poor agreement in polygenic scoring for type 2 diabetes

The paper shows that statistical uncertainty explains disagreement in type 2 diabetes polygenic scores and proposes using uncertainty measures to improve risk prediction.

Genome-wide analysis implicates inner ear development in Meniere's disease

This study identifies genetic loci associated with Meniere's disease and links them to inner ear development and retinoic acid metabolism.

Mendelian randomization suggests a causal link between glycemic traits and thoracic aortic structures and diseases

This study uses Mendelian randomization to show that higher glycemic traits are inversely associated with thoracic aortic diameters and reduced risk of aneurysm and dissection.

Hidden structure in polygenic scores and the challenge of disentangling ancestry interactions in admixed populations

This paper examines how genetic interactions with ancestry affect polygenic scores and shows that models of local and global ancestry interactions can be distinguished using partial polygenic scores when causal variants are known.

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes

The paper conducts a large-scale rare variant GWAS meta-analysis of type 2 diabetes, identifying novel variants in monogenic diabetes genes and assessing their pathogenicity.

All of Us diversity and scale improve polygenic prediction contextually with greatest improvements for underrepresented populations

The paper improves polygenic prediction accuracy by using diverse datasets, showing greater benefits for underrepresented populations.

Multi-omics characterization of type 2 diabetes associated genetic variation.

This study integrates multi-omics data to identify genetic variants and molecular mechanisms associated with type 2 diabetes and highlights potential drug targets.

Calibrated prediction intervals for polygenic scores across diverse contexts

The paper introduces context-aware prediction intervals for polygenic scores to improve calibration across diverse populations and traits.

Admix-kit: An Integrated Toolkit and Pipeline for Genetic Analyses of Admixed Populations

Admix-kit provides tools for genetic analysis of admixed populations, enabling simulation, association testing, and polygenic scoring.

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

Multi-ancestry Polygenic Mechanisms of Type 2 Diabetes Elucidate Disease Processes and Clinical Heterogeneity

This study identifies genetic subtypes of type 2 diabetes across diverse ancestries, revealing ancestry-specific risk profiles and BMI thresholds.

Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications

This study identifies 1,289 genetic signals for type 2 diabetes in 2.5 million individuals, revealing distinct clusters linked to vascular complications and highlighting ancestry-specific genetic risk factors.

The power of TOPMed imputation for the discovery of Latino enriched rare variants associated with type 2 diabetes

The paper demonstrates that TOPMed imputation improves the identification of rare variants associated with type 2 diabetes in Latino populations, leading to novel associations and better polygenic scores.