Abhishek Niroula
A5036583230- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Multiple Myeloma Research and Treatments
- Genetic Associations and Epidemiology
- Single-cell and spatial transcriptomics
- Eosinophilic Disorders and Syndromes
- Hemoglobinopathies and Related Disorders
- Hematopoietic Stem Cell Transplantation
- RNA and protein synthesis mechanisms
- Amino Acid Enzymes and Metabolism
- RNA modifications and cancer
- Protein Structure and Dynamics
- Bioinformatics and Genomic Networks
- Machine Learning in Bioinformatics
- Cytokine Signaling Pathways and Interactions
- Cardiac tumors and thrombi
- Lymphoma Diagnosis and Treatment
- Immune cells in cancer
- Vasculitis and related conditions
- Cardiovascular Health and Risk Factors
- Chronic Myeloid Leukemia Treatments
Lund University
2015-2024
Broad Institute
2019-2024
Dana-Farber Cancer Institute
2020-2024
University of Gothenburg
2023-2024
Harvard University
2021-2024
Science for Life Laboratory
2023-2024
Massachusetts Institute of Technology
2021-2024
Boston University
2023
Stem Cell Institute
2022
More reliable and faster prediction methods are needed to interpret enormous amounts of data generated by sequencing genome projects. We have developed a new computational tool, PON-P2, for classification amino acid substitutions in human proteins. The method is machine learning-based classifier groups the variants into pathogenic, neutral unknown classes, on basis random forest probability score. PON-P2 trained using pathogenic obtained from VariBench, database benchmark variation datasets....
Abstract Chronic obstructive pulmonary disease (COPD) is associated with age and smoking, but other determinants of the are incompletely understood. Clonal hematopoiesis indeterminate potential (CHIP) a common, age-related state in which somatic mutations clonal blood populations induce aberrant inflammatory responses. Patients CHIP have an elevated risk for cardiovascular disease, association COPD remains unclear. We analyzed whole-genome sequencing whole-exome data to detect 48 835...
Clonal hematopoiesis of indeterminate potential (CHIP) and clonal cytopenia undetermined significance (CCUS) are defined by somatic mutations in genes associated with myeloid neoplasms (MN) at a variant allele fraction (VAF) ≥ 0.02, the absence presence cytopenia, respectively. CHIP/CCUS is highly prevalent adults defining predictors MN risk would aid clinical management research.
Background and Purpose: Clonal hematopoiesis of indeterminate potential (CHIP) is a novel age-related risk factor for cardiovascular disease–related morbidity mortality. The association CHIP with incident ischemic stroke was reported previously in an exploratory analysis including small number cases without replication lack subphenotyping. purpose this study to discover whether or hemorrhagic stroke. Methods: We utilized plasma genome sequence data blood DNA identify 78 752 individuals from...
Osteoporosis is caused by an imbalance of osteoclasts and osteoblasts, occurring in close proximity to hematopoietic cells the bone marrow. Recurrent somatic mutations that lead expanded population mutant blood termed clonal hematopoiesis indeterminate potential (CHIP). Analyzing exome sequencing data from UK Biobank, we found CHIP be associated with increased incident osteoporosis diagnoses decreased mineral density. In murine models, hematopoietic-specific Dnmt3a, most commonly mutated...
Gout is a common inflammatory arthritis caused by precipitation of monosodium urate (MSU) crystals in individuals with hyperuricemia. Acute flares are accompanied secretion proinflammatory cytokines, including interleukin-1β (IL-1β). Clonal hematopoiesis indeterminate potential (CHIP) an age-related condition predisposing to hematologic cancers and cardiovascular disease. CHIP associated elevated IL-1β, thus we investigated as risk factor for gout. To test the clinical association between...
Characterized by the accumulation of somatic mutations in blood cell lineages, clonal hematopoiesis (CH) indeterminate potential (CHIP) is frequent ageing, involves expansion mutated hematopoietic stem and progenitor cells (HSC/Ps) that leads to an increased risk hematologic malignancy. However, factors contribute CHIP-associated CH are poorly understood. Obesity induces a pro-inflammatory state fatty bone marrow (FBM), which may influence pathologies. We analyzed exome sequencing clinical...
Clonal hematopoiesis of indeterminate potential (CHIP), a common age-associated phenomenon, associates with increased risk both hematological malignancy and cardiovascular disease. Although CHIP is known to increase the myocardial infarction heart failure, influence in cardiac arrhythmias, such as atrial fibrillation (AF), less explored.
Premature menopause is an independent risk factor for cardiovascular disease in women, but mechanisms underlying this association remain unclear. Clonal hematopoiesis of indeterminate potential (CHIP), the age-related expansion hematopoietic cells with leukemogenic mutations without detectable malignancy, associated accelerated atherosclerosis. Whether premature CHIP unknown.We included postmenopausal women from UK Biobank (n=11 495) aged 40 to 70 years whole exome sequences and Women's...
Computational tools are widely used for interpreting variants detected in sequencing projects. The choice of these is critical reliable variant impact interpretation precision medicine and should be based on systematic performance assessment. the methods varies different assessments, example due to contents sizes test datasets. To address this issue, we obtained 63,160 common amino acid substitutions (allele frequency ≥1% <25%) from Exome Aggregation Consortium (ExAC) database, which...
<h3>Importance</h3> Clonal hematopoiesis of indeterminate potential (CHIP), the expansion somatic leukemogenic variations in hematopoietic stem cells, has been associated with atherosclerotic cardiovascular disease. Because inherited risk developing CHIP is low, lifestyle elements such as dietary factors may be development and outcomes CHIP. <h3>Objective</h3> To examine whether there an association between diet quality prevalence <h3>Design, Setting, Participants</h3> This retrospective...
Human genetic studies support an inverse causal relationship between leukocyte telomere length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL diverse malignancies. Clonal hematopoiesis of indeterminate potential (CHIP), characterized by expansion hematopoietic cells bearing leukemogenic mutations, predisposes both hematologic malignancy CAD. TERT (which encodes telomerase reverse transcriptase) is the most significantly associated germline locus CHIP in...
Abstract Clonal hematopoiesis of indeterminate potential (CHIP) and mosaic chromosomal alterations (mCAs) represent two forms clonal where clones bearing expanded somatic mutations have been linked to both oncologic non-oncologic clinical outcomes including atherosclerosis all-cause mortality. Epidemiologic studies highlighted smoking as an important driver across multiple tissues. However, establishing the causal role in has limited by observational study designs, which may suffer from...
To prospectively examine the association between clonal hematopoiesis (CH) and subsequent risk of lung cancer.
Clonal hematopoiesis of indeterminate potential (CHIP) is associated with an increased risk cardiovascular diseases (CVD), putatively via inflammasome activation. We pursued inflammatory gene modifier scan for CHIP-associated CVD among 424,651 UK Biobank participants. CHIP was identified using whole exome sequencing data blood DNA and modeled both as a composite common drivers (DNMT3A, TET2, ASXL1, JAK2) separately. developed predicted expression scores 26 inflammasome-related genes assessed...
Abstract Background and Aims Clonal haematopoiesis of indeterminate potential (CHIP), the age-related expansion blood cells with preleukemic mutations, is associated atherosclerotic cardiovascular disease heart failure. This study aimed to test association CHIP new-onset arrhythmias. Methods UK Biobank participants without prevalent arrhythmias were included. Co-primary outcomes supraventricular arrhythmias, bradyarrhythmias, ventricular Secondary cardiac arrest, atrial fibrillation, any...
Somatic mutations in the TET2 gene that lead to clonal haematopoiesis (CH) are associated with accelerated atherosclerosis development mice and a higher risk of atherosclerotic disease humans. Mechanistically, these observations have been linked exacerbated vascular inflammation. This study aimed evaluate whether colchicine, widely available inexpensive anti-inflammatory drug, prevents TET2-mutant CH.