Explanipedia

Genetics and context for precision health in Greater Boston Open

Satoshi Koyama, Kaavya Paruchuri, Md Mesbah Uddin, Sarah Urbut, Sara Haidermota , et al. · 2025

Mass General Brigham, an integrated healthcare system based in the Greater Boston area of Massachusetts, annually serves 1.5 million patients. We established the Mass General Brigham Biobank (MGBB), currently encompassing 142,238 participa…

A Comprehensive Machine Learning and Explainable AI Approach for Modeling and Interpreting Student Academic Performance Open

Md Mesbah Uddin, Ariful Islam Lifat, Md. Sadiq Iqbal · 2025

Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis Open

Joshua S. Weinstock, Jayakrishnan Gopakumar, Bala Bharathi Burugula, Md Mesbah Uddin, Nikolaus Jahn , et al. · 2025

Clonal hematopoiesis of indeterminate potential and the risk of cognitive impairment in the Women's Health Initiative Memory Study Open

Yasminka A. Jakubek, Aaron P. Smith, Xiaoyan Leng, Megan E. Hall, Daniel Ezzat , et al. · 2025

INTRODUCTION Clonal hematopoiesis of indeterminate potential (CHIP) confers an increased risk of several chronic aging‐related diseases. Paradoxically, CHIP was associated with lower risk of dementia in recent studies. METHODS We examined …

Clonal Hematopoiesis and Cardiovascular Outcomes in Older Women Open

Daniel Ezzat, Md Mesbah Uddin, Liying Xue, Yash Pershad, Shengruo Zhang , et al. · 2025

In an older female cohort, key CHIP subtypes (TET2, ASXL1, and JAK2) were associated with incident CVD, with associations that appeared to differ by CVD outcome. These findings suggest that CHIP remains associated with cardiovascular healt…

Clonal Hematopoiesis of Indeterminate Potential and the Risk of Cognitive Impairment in the Women’s Health Initiative Memory Study Open

Yasminka A. Jakubek, Aaron P. Smith, Xiaoyan Leng, Megan E. Hall, Daniel Ezzat , et al. · 2025

INTRODUCTION Clonal hematopoiesis of indeterminate potential (CHIP) confers an increased risk of several chronic aging-related diseases. Paradoxically, CHIP was associated with lower risk of dementia in recent studies. METHODS We examined …

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy Open

Jie Liu, Duc Tran, Liying Xue, Brian J. Wiley, Caitlyn Vlasschaert , et al. · 2025

With age, clonal expansions occur pervasively across normal tissues yet only in rare instances lead to cancer, despite being driven by well-established cancer drivers. Characterization of the factors that influence clonal progression is ne…

Deep Learning Algorithms for Optimized Thyroid Nodule Classification Open

Md Mesbah Uddin, Syed Hassaan Ali Shah, Mohammed Abdul Mamtaan, MA Bari · 2025

Effective classification and early thyroid nodule detection are vital given the rising incidence of thyroidcancer. Physicians can greatly benefit from automated systems that speed up diagnostic procedures. Due to thescarcity of medical pic…

Correlates and consequences of clonal hematopoiesis expansion rate: a 16-year longitudinal study of 6976 women Open

Yash Pershad, Md Mesbah Uddin, Liying Xue, Jeffrey Haessler, Jason M. Collins , et al. · 2025

Clonal hematopoiesis of indeterminate potential (CHIP) is associated with increased mortality and malignancy risk, yet the determinants of clonal expansion remain poorly understood. We performed sequencing at a depth of coverage of >400…

Mechanism of age-related accumulation of mitochondrial DNA mutations in human blood Open

Rahul Gupta, Timothy Durham, Grant Chau, Md Mesbah Uddin, Wenhan Lu , et al. · 2025

One of the strongest signatures of aging is an accumulation of mutant mitochondrial DNA (mtDNA) heteroplasmy. Here we investigate the mechanism underlying this phenomenon by calling mtDNA sequence, abundance, and heteroplasmic variation in…

Epigenome-wide DNA methylation association study of CHIP provides insight into perturbed gene regulation Open

Sara Kirmani, Tianxiao Huan, Joseph C. Van Amburg, Roby Joehanes, Md Mesbah Uddin , et al. · 2025

With age, hematopoietic stem cells can acquire somatic mutations in leukemogenic genes that confer a proliferative advantage in a phenomenon termed CHIP. How these mutations result in increased risk for numerous age-related diseases remain…

AI in Precision Oncology: Revolutionizing Cancer Treatment Through Personalized Drug Discovery Open

Md. Firoz Hossain, Md Mesbah Uddin · 2025

Artificial intelligence (AI) is revolutionizing precision oncology by enabling early detection of cancer, accurate diagnosis, and personalized treatment plans. This research aligns the mechanisms and techniques stemming from AI with their …

Clinical progression of clonal hematopoiesis is determined by a combination of mutation timing, fitness, and clonal structure Open

Eric Latorre‐Crespo, Neil Robertson, E. Gozde Kosebent, Louise MacGillivray, Lee Murphy , et al. · 2025

Clonal hematopoiesis (CH) is characterized by expanding blood cell clones carrying somatic mutations in healthy aged individuals and is associated with various age-related diseases and all-cause mortality. While CH mutations affect diverse…

Genomic Drivers of Coronary Artery Disease and Risk of Future Outcomes After Coronary Angiography Open

Kelvin Supriami, Sarah Urbut, José R. Tello-Ayala, Ozan Ünlü, Sam Friedman , et al. · 2025

Importance Disease characteristics of genetically mediated coronary artery disease (CAD) on coronary angiography and the association of genomic risk with outcomes after coronary angiography are not well understood. Objective To assess the …

Correlates and Consequences of Clonal Hematopoiesis Expansion Rate: A 15-Year Longitudinal Study of 6,986 Women Open

Yash Pershad, Md Mesbah Uddin, Liying Xue, Jeffrey Haessler, Jason M. Collins , et al. · 2025

Clonal hematopoiesis of indeterminate potential (CHIP) is associated with increased mortality and malignancy risk, yet the determinants of clonal expansion remain poorly understood. We performed sequencing at >4,000x depth of coverage for …

Genomic, phenomic, and geographic associations of leukocyte telomere length in the United States Open

Tetsushi Nakao, Satoshi Koyama, Buu Truong, Md Mesbah Uddin, Anika Misra , et al. · 2024

Leukocyte telomere length (LTL) is associated with multiple conditions, including cardiovascular diseases and neoplasms, yet their differential associations across diverse individuals are largely unknown. We estimated LTL from blood-derive…

An Integrated Germline and Somatic Genomic Model Improves Risk Prediction for Coronary Artery Disease Open

Xiong Yang, Min Seo Kim, Xinyu Zhu, Md Mesbah Uddin, Tetsushi Nakao , et al. · 2024

Multiple germline and somatic genomic factors are associated with risk of coronary artery disease (CAD), but there is no single measure of risk that integrates all information from a DNA sample, limiting clinical use of genomic information…

Long-term longitudinal analysis of 4,187 participants reveals insights into determinants of clonal hematopoiesis Open

Md Mesbah Uddin, Seyedmohammad Saadatagah, Abhishek Niroula, Bing Yu, Whitney Hornsby , et al. · 2024

Clonal hematopoiesis of indeterminate potential (CHIP) is linked to diverse aging-related diseases, including hematologic malignancy and atherosclerotic cardiovascular disease (ASCVD). While CHIP is common among older adults, the underlyin…

Colchicine prevents accelerated atherosclerosis in <i>TET2</i>-mutant clonal haematopoiesis Open

María A. Zuriaga, Zhi Yu, Nuria Matesanz, Buu Truong, Beatriz López Ramos-Neble , et al. · 2024

Background and Aims Somatic mutations in the TET2 gene that lead to clonal haematopoiesis (CH) are associated with accelerated atherosclerosis development in mice and a higher risk of atherosclerotic disease in humans. Mechanistically, the…

AI-Powered Early Detection of Cardiovascular Diseases: A Global Health Priority Open

Md Shafiqul Islam, Md Mesbah Uddin, Md. Firoz Hossain, M. Hussain, Oli Ahammed Sarker , et al. · 2024

Timely identification of Cardiovascular diseases (CVDs) is critical in their prevention. However, conventional diagnostic techniques encounter challenges like late identification of the dangers and inadequate utilization of multiple risk f…

Technology-Assisted Parent Training Programs for Autism Management Open

Md Rayhan Khan, Md. Firoz Hossain, Md Mesbah Uddin, Tasmim Jamal Joti · 2024

The developmental condition known as autism spectrum disorder (ASD) is defined by recurring behavioural patterns and challenges with social communication. Taking care of a kid with impairments presents parents with a lot of emotional and p…

Artificial Intelligence Based Healthcare: Applications, Challenges, and Future Directions Open

Thamina Akther, Misha Billah, Md Samiun, Md. Firoz Hossain, Md Mesbah Uddin , et al. · 2024

Healthcare services are being transformed by AI, IoT, big data analytics, blockchain, and cloud computing, transforming the medical model from disease-centered to patient-centered care. AI enables doctors to make more accurate diagnoses, h…

Clonal hematopoiesis of indeterminate potential is associated with reduced risk of cognitive impairment in patients with chronic kidney disease Open

Cissy Xiao, Manjula Kurella Tamura, Yang Pan, Varun Rao, Celestin Missikpode , et al. · 2024

INTRODUCTION Clonal hematopoiesis of indeterminate potential (CHIP) and dementia disproportionately burden patients with chronic kidney disease (CKD). The association between CHIP and cognitive impairment in CKD patients is unknown. METHOD…

<i>JAK2</i>-mutant clonal hematopoiesis is associated with venous thromboembolism Open

Rebecca L. Zon, Aswin Sekar, Katharine Clapham, Ohad Oren, Abhishek Niroula , et al. · 2024

Venous thromboembolism (VTE) is common among older individuals, but provoking factors are not identified in many cases. Patients with myeloid malignancies, especially myeloproliferative neoplasms (MPNs), are at increased risk for venous th…

Epigenome-wide DNA Methylation Association Study of CHIP Provides Insight into Perturbed Gene Regulation Open

Sara Kirmani, Tianxiao Huan, Joseph C. Van Amburg, Roby Joehanes, Md Mesbah Uddin , et al. · 2024

With age, hematopoietic stem cells can acquire somatic mutations in leukemogenic genes that confer a proliferative advantage in a phenomenon termed “clonal hematopoiesis of indeterminate potential” (CHIP). How these mutations confer a prol…

Clonal hematopoiesis of indeterminate potential contributes to accelerated chronic kidney disease progression Open

Caitlyn Vlasschaert, Yang Pan, Jianchun Chen, Elvis A. Akwo, Varun Rao , et al. · 2024

Background Clonal hematopoiesis of indeterminate potential (CHIP) is a common inflammatory condition of aging that causes myriad end-organ damage. We have recently shown associations for CHIP with acute kidney injury and with kidney functi…

Genetic Architecture and Clinical Outcomes of Combined Lipid Disturbances Open

Thomas Gilliland, Jacqueline S. Dron, Margaret Sunitha Selvaraj, Mark Trinder, Kaavya Paruchuri , et al. · 2024

BACKGROUND: Dyslipoproteinemia often involves simultaneous derangements of multiple lipid traits. We aimed to evaluate the phenotypic and genetic characteristics of combined lipid disturbances in a general population-based cohort. METHODS:…

Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease Open

Md Mesbah Uddin, Ngoc Quynh Nguyen, Bing Yu, Jacob A. Brody, Akhil Pampana , et al. · 2024

Age-related changes to the genome-wide DNA methylation (DNAm) pattern observed in blood are well-documented. Clonal hematopoiesis of indeterminate potential (CHIP), characterized by the age-related acquisition and expansion of leukemogenic…

Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics Open

Md Mesbah Uddin, Ying Zhou, Alexander G. Bick, Bala Bharathi Burugula, Siddhartha Jaiswal , et al. · 2024

Background: Clonal hematopoiesis of indeterminate potential (CHIP), the age-related expansion of mutant hematopoietic stem cells, confers risk for multiple diseases of aging including hematologic cancer and cardiovascular disease. Whole-ex…

The Future Revolution of Transforming Business Through Sustainable Innovation Open

Istiaque Mahmud, Md Mesbah Uddin, Md. Firoz Hossain, M. Farouk, Tahmina Ali Adrita , et al. · 2024

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