Kousik Kundu

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.

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

Integrating Natural and Engineered Genetic Variation to Decode Regulatory Influence on Blood Traits

The paper combines natural and engineered genetic variation to identify 22 non-coding variants affecting haematological traits and shows how a CUX1 variant impacts megakaryopoiesis.

Misexpression of inactive genes in whole blood is associated with nearby rare structural variants

The paper identifies misexpression of inactive genes in whole blood and links it to nearby rare structural variants using RNA and genome sequencing data.

Genetic influences on circulating retinol and its relationship to human health

This study conducts a large GWAS of retinol, identifies genetic loci, and uses MR-pheWAS to explore retinol's causal relationships with various health traits.

A map of transcriptional heterogeneity and regulatory variation in human microglia

The paper profiles gene expression in human microglia from 141 patients, identifies population shifts in acute brain injury, maps eQTLs, and fine-maps Alzheimer's risk variants using hIPSC-derived macrophages.

The Polygenic and Monogenic Basis of Blood Traits and Diseases

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

The influence of rare variants in circulating metabolic biomarkers

The paper identifies novel gene-trait associations and pathways involving rare variants in metabolic biomarkers linked to cardiovascular disease risk.

Genetic Analyses of Blood Cell Structure for Biological and Pharmacological Inference

This study performs GWAS on blood cell flow-cytometry phenotypes, identifies variant-trait associations, and links them to cellular structures and disease mechanisms.

Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for twelve immune-mediated diseases

This study uses regulatory QTLs from immune cells to fine-map causal variants for twelve immune-mediated diseases, finding smaller credible sets and higher posterior probabilities compared to traditional methods.

Population-wide copy number variation calling using variant call format files from 6,898 individuals

This paper calls copy number variants from whole-genome sequencing data of 6,898 individuals using a regression tree-based method, identifying 1,320 CNVs and their potential clinical impact.

Immune disease variants modulate gene expression in regulatory CD4+ T cells and inform drug targets

The paper identifies immune disease variants affecting Treg gene expression and highlights potential drug targets by linking GWAS signals with Treg QTLs.

Variation in PU.1 binding and chromatin looping at neutrophil enhancers influences autoimmune disease susceptibility

The paper identifies how variation in PU.1 binding and chromatin looping at neutrophil enhancers influences autoimmune disease susceptibility and cell count differences.

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

The paper performs deep whole genome sequencing on 1,457 individuals to investigate rare variant contributions to cardiometabolic traits, identifying new regulatory variants and gene-trait associations.

Shared genetic effects on chromatin and gene expression reveal widespread enhancer priming in immune response

The paper identifies genetic effects on chromatin and gene expression in immune response conditions, revealing enhancer priming in naive cells.