Anubha Mahajan

scEPS integrates GWAS and single-cell data to identify disease-associated cell neighborhoods by testing gene expression variance explained in disease contexts.

This study identifies the classical complement pathway as a therapeutic target in Alzheimer's disease and demonstrates the efficacy of antisense oligonucleotides in rescuing synapse loss in mouse models.

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

The paper maps genetic associations with plasma proteins in 54,306 UK Biobank participants, identifying 10,248 new protein quantitative trait loci (pQTLs) and expanding the genetic architecture of the plasma proteome.

The paper identifies shared genetic regulation across mRNA, proteins, and metabolites in blood, revealing networks and mediators of GWAS variants.

This study identifies genetic loci associated with gestational duration and preterm delivery, showing maternal and fetal genetic effects and antagonistic pleiotropy with birth weight.

This study identifies 43 genomic loci associated with reproductive success in 785,604 individuals, showing ongoing natural selection at the FADS locus.

This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

This study identifies genetic variants associated with glycaemic response to GLP-1 receptor agonists using observational and trial data, finding variants in GLP-1R and ARRB1 linked to HbA1c reduction.

This study identifies 400+ genetic loci associated with circulating metabolic traits and highlights pleiotropy and novel disease pathways.

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

This paper improves genetic scores for adiposity traits in East Asian populations by using trans-ancestry meta-analysis, increasing variance explained compared to European-derived scores.

This study identifies 277 T2D loci using diverse populations and improves fine-mapping to assess causal genes and mechanisms, enhancing clinical translation.

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

The paper develops a framework to determine tissue-of-action for type 2 diabetes GWAS signals by integrating gene expression and epigenomic data, revealing key tissues and enhancing functional interpretation.

The paper investigates how genetic variants affect gene expression in human pancreatic islets and identifies candidate genes linked to type 2 diabetes.

This study develops machine learning models to predict liver fat content using multi-omic and clinical data from NAFLD patients, achieving higher accuracy than existing tools.

This paper identifies four genetic regions associated with both type 1 and type 2 diabetes, with three showing opposite effect directions and one showing concordant effects.

This paper identifies 56 new type 2 diabetes loci in 433,540 East Asian individuals through a meta-analysis of GWAS data.

This study identifies novel genetic loci associated with BMI in Indians through GWAS and explores their epigenetic and regulatory mechanisms.

This study identifies early metabolic features associated with genetic liability to type 2 diabetes across childhood, adolescence, and young adulthood using longitudinal metabolomics data.

The paper uses deep learning models to predict regulatory variants in pancreatic islets and refines T2D association signals by integrating epigenomic data with genetic fine-mapping.

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

The paper identifies an association between the HLA-DQA1*01:03 allele and increased risk of invasive group A streptococcal disease using case-control studies and HLA imputation.

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.

This study conducts a large GWAS on heart failure, identifying 12 genetic loci with associations to CAD, atrial fibrillation, and reduced left ventricular function, and provides causal evidence for several risk factors.

This study identifies genetic effects on birth weight and their impact on cardio-metabolic traits, distinguishing fetal and maternal contributions.

The paper integrates genetic, genomic, and functional data to identify convergent biological pathways in type 2 diabetes, revealing enriched functional connectivity among causal genes.

This study investigates the association between genetic variants in PMAT and OCT1 transporters and metformin gastrointestinal intolerance in type 2 diabetes patients.

This study expands the genetic landscape of COPD by identifying 82 risk loci, revealing associations with lung function, cell types, and comorbidities.