V. Kartik Chundru

Quantifying heritability in functional regions of the coding and non-coding genome across diverse individuals

The paper estimates whole-genome heritability of complex traits across diverse populations, finding rare and non-coding variants significantly contribute to heritability.

Investigating the pathogenicity of missense spliceogenic variants using whole-genome sequencing, RNA-sequencing, and proteomics data from population and clinical research cohorts

The paper investigates missense spliceogenic variants (MSVs) using genomic and proteomic data, finding they are common and can cause disease through splicing disruption, often missed by protein-centric tools.

AlphaGenome Atlas: in silico mutagenesis of the entire human genome improves prioritization and interpretation of non-coding variants

AlphaGenome Atlas predicts regulatory effects of non-coding variants across the human genome, improving their prioritization and interpretation.

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery

The paper creates a genome-wide map of homozygous deletions in 125,730 individuals, identifying novel rare disease genes and variants.

Polygenic Background Contributes to GCK-MODY Clinical Presentation and Glycaemic Variability

This study shows that polygenic risk scores for diabetes traits are associated with higher HbA1c and increased diabetes diagnosis risk in GCK-MODY carriers, highlighting the interaction between monogenic and polygenic factors.

Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations

This study uses whole-genome sequencing in 672,976 individuals to show rare and common variants converge in genetic associations for anthropometric traits, with ultra-rare variants explaining less than 10% of heritability.

Federated cross-biobank conditional analysis identifies LDL-C lowering effects of DNAJC13 haploinsufficiency and LDLR regulation

The paper uses a federated approach to conditionally analyze genetic variants across biobanks, identifying LDL-C lowering effects of DNAJC13 haploinsufficiency and LDLR regulation.

Modulating splicing in five prime untranslated regions to treat rare haploinsufficient disease

This study identifies 5'UTR exons containing uORFs as targets for splice-switching to increase protein translation in haploinsufficient disease genes.

Genotype-level quality control substantially reduces error rates in population-scale whole-genome sequencing

The paper reduces error rates in population-scale whole-genome sequencing by applying genotype-level quality control, demonstrating its effectiveness using UK Biobank and All of Us datasets.

Common Genetic Variants Modify Disease Risk and Clinical Presentation in Monogenic Diabetes

The paper shows that common genetic variants influence disease risk and severity in monogenic diabetes, modifying clinical outcomes in individuals with pathogenic variants.

Substantial role of rare inherited variation in individuals with developmental disorders

The paper investigates the role of rare inherited coding variants in developmental disorders by analyzing family and case/control data, finding significant burdens of damaging variants and estimating their population attributable risk.

An atlas of expressed transcripts in the prenatal and postnatal human cortex

The paper characterizes expressed transcripts in the human cortex across development, identifying novel coding sequences with clinical relevance.

Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions

This study investigates how common genetic variants contribute to risk for rare neurodevelopmental conditions and examines indirect genetic effects through parental non-transmitted alleles.

Whole genome sequencing analysis identifies rare, large-effect non-coding variants and regions associated with circulating protein levels

The paper uses whole-genome sequencing data from UK Biobank participants to identify rare non-coding variants and regions associated with circulating protein levels.

Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations

The paper quantifies the contribution of recessive coding variants to developmental disorders in diverse populations, identifying novel genes and highlighting challenges in interpreting missense variants.

Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

The paper investigates whether common cis-regulatory variants modify the penetrance of rare damaging coding variants in neurodevelopmental disorders using transcriptome-wide association and cis-eQTL analysis.

Rare Genetic Variants Underlie Outlying levels of DNA Methylation and Gene-Expression

This study identifies rare genetic variants associated with extreme DNA methylation levels and shows their impact on gene expression in healthy ageing populations.

Optimising diagnostic yield in highly penetrant genomic disease

The paper reports diagnostic outcomes from a large-scale genomic study of developmental disorders, identifying factors that influence diagnostic success.

Multi-ancestry GWAS of major depression aids locus discovery, fine-mapping, gene prioritisation, and causal inference

This paper conducts a multi-ancestry GWAS of major depression, identifying 190 loci and 354 genes, with findings showing increased fine-mapping power and bidirectional BMI relationship in European ancestry samples.