Sri V. V. Deevi

Clonal haematopoiesis without identified genetic drivers: insights from analyses of 407,512 individuals

This study identifies 26,963 individuals with clonal haematopoiesis without known genetic drivers (CH-UD) and finds strong genetic and phenotypic links to other forms of clonal haematopoiesis, implicating TCL1A and epigenetic changes.

Genetic ancestral patterns in CYP2D6 alleles: structural variants, rare variants, and clinical associations in 479,144 UK Biobank genomes

The paper analyzes CYP2D6 genetic variation across 479,144 UK Biobank genomes, identifying structural and rare variants, and their clinical associations across ancestries.

Comparative analysis of 136,401 Admixed Americans and 419,228 Europeans reveals ancestry-specific genetic determinants of clonal haematopoiesis

This study compares clonal haematopoiesis (CH) between admixed Americans and Europeans, finding ancestry-specific genetic factors and lower CH prevalence in admixed populations.

Genetic architecture of telomere length in 462,675 UK Biobank whole-genome sequences

The paper identifies 53 rare variants and 22 genes associated with telomere length using UK Biobank whole-genome sequences, highlighting their role in clonal haematopoiesis and disease.

Codon affinity in mitochondrial DNA shapes evolutionary and somatic fitness

The paper identifies a synonymous mtDNA variant that affects codon-anticodon affinity and shows its impact on cellular fitness in immune cells.

Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participants

This study uses exome sequencing of 177,882 UK Biobank participants to assess the role of rare variants in 10,533 phenotypes, identifying 911 significant gene-phenotype relationships.

A broad exome study of the genetic architecture of asthma reveals novel patient subgroups

This study uses exome data from 24,576 asthma cases and 120,530 controls to identify rare variants associated with asthma risk, revealing novel subgroups and gene effects.

Identification of a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

The paper identifies a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis through genome-wide association analysis.

Whole-genome sequencing of rare disease patients in a national healthcare system

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

GRID - Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies

The paper introduces a diagnostic gene panel called GRID for primary immunodeficiencies, showing high sensitivity and specificity in identifying genetic variants across 279 genes.