Sri V. V. Deevi
A5105298751- Immunodeficiency and Autoimmune Disorders
- Genomics and Rare Diseases
- Platelet Disorders and Treatments
- Genetic Associations and Epidemiology
- Immune Cell Function and Interaction
- Genetic factors in colorectal cancer
- Telomeres, Telomerase, and Senescence
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cystic Fibrosis Research Advances
- Genetics and Neurodevelopmental Disorders
- Blood disorders and treatments
- Single-cell and spatial transcriptomics
- Genomic variations and chromosomal abnormalities
- Lung Cancer Treatments and Mutations
- Retinal Development and Disorders
- Medical Imaging and Pathology Studies
- NF-κB Signaling Pathways
- Cardiomyopathy and Myosin Studies
- RNA regulation and disease
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Pulmonary Hypertension Research and Treatments
- Lysosomal Storage Disorders Research
- Glycosylation and Glycoproteins Research
AstraZeneca (United Kingdom)
2020-2025
University of Cambridge
2016-2023
Cambridge University Hospitals NHS Foundation Trust
2018-2023
Discovery Centre
2023
AstraZeneca (Australia)
2020
National Institute for Health Research
2016-2019
NIHR BioResource
2019
NHS Blood and Transplant
2018
Bridge University
2018
Abstract Genome-wide association studies have uncovered thousands of common variants associated with human disease, but the contribution rare to disease remains relatively unexplored. The UK Biobank contains detailed phenotypic data linked medical records for approximately 500,000 participants, offering an unprecedented opportunity evaluate effect variation on a broad collection traits 1,2 . Here we study relationships between protein-coding and 17,361 binary 1,419 quantitative phenotypes...
E527K hyperactive SRC results in megakaryocytes with increased podosome formation, thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Telomeres protect chromosome ends from damage and their length is linked with human disease aging. We developed a joint telomere metric, combining quantitative PCR whole-genome sequencing measurements 462,666 UK Biobank participants. This metric increased SNP heritability, suggesting that it better captures genetic regulation of length. Exome-wide rare-variant gene-level collapsing association studies identified 64 variants 30 genes significantly associated length, including allelic series...
Spontaneous coronary artery dissection (SCAD) occurs when an epicardial is narrowed or occluded by intramural hematoma. SCAD mainly affects women and associated with pregnancy systemic arteriopathies, particularly fibromuscular dysplasia. Variants in several genes, such as those causing connective tissue disorders, have been implicated; however, the genetic architecture poorly understood. Here, we aim to better understand diagnostic yield of rare variant testing among a cohort survivors...
Sequencing studies have identified causal genetic variants for distinct subtypes of heart failure (HF) such as hypertrophic or dilated cardiomyopathy. However, the role rare, high-impact in HF, which ischemic disease is leading cause, has not been systematically investigated.To assess contribution rare to all-cause HF with and without reduced left ventricular ejection fraction.This was a retrospective analysis clinical trials prospective epidemiological resource (UK Biobank). Whole-exome...
Abstract Idiopathic pulmonary fibrosis (IPF) is a fatal disorder characterised by progressive, destructive lung scarring. Despite substantial progress, the genetic determinants of this disease remain incompletely defined. Using whole genome and exome sequencing data from 752 individuals with sporadic IPF 119,055 UK Biobank controls, we performed variant-level exome-wide association study (ExWAS) gene-level collapsing analyses. Our analysis revealed novel between rare missense variant in...
The authors applied whole-genome sequencing (WGS) in 9,802 patients with a rare disease national health system to streamline diagnosis and discover unknown aetiological variants the coding non-coding regions of genome. WGS identified genetic 1138/7065 extensively phenotyped participants. They 95 genes which mutations were very likely be cause Mendelian disease.
Increasing numbers of genes are being implicated in Mendelian disorders and incorporated into clinical test panels. However, lack evidence supporting the gene-disease relationship can hinder interpretation. We explored utility testing 51 additional for hypertrophic cardiomyopathy (HCM), one most commonly tested disorders.Using genome sequencing data from 240 sarcomere gene negative HCM cases 6229 controls, we undertook case-control individual variant analyses to assess that have been...
The aims of our study were to use whole genome sequencing in a cross-sectional cohort patients identify new variants genes implicated neuropathic pain, determine the prevalence known pathogenic and understand relationship between clinical presentation. Patients with extreme pain phenotypes (both sensory loss gain) recruited from secondary care clinics UK underwent as part National Institute for Health Care Research Bioresource Rare Diseases project. A multidisciplinary team assessed...
To determine the frequency of rare and pertinent disease-causing variants in small vessel disease (SVD)-associated genes (such as
The heterogeneous manifestations of MYH9-related disorder (MYH9-RD), characterized by macrothrombocytopenia, Döhle-like inclusion bodies in leukocytes, bleeding variable severity with, some cases, ear, eye, kidney, and liver involvement, make the diagnosis for these patients still challenging clinical practice. We collected phenotypic data analyzed genetic variants more than 3,000 with a or platelet disorder. Patients were enrolled BRIDGE-BPD ThromboGenomics Projects their samples processed...
Summary The UK Biobank (UKB) represents an unprecedented population-based study of 502,543 participants with detailed phenotypic data and linkage to medical records. While the release genotyping array for this cohort has bolstered genomic discovery common variants, contribution rare variants broad phenotype collection remains relatively unknown. Here, we use exome sequencing from 177,882 UKB evaluate association between protein-coding 10,533 binary 1,419 quantitative phenotypes. We performed...