Search Results - "Menon, Vipin K"
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Truvari: refined structural variant comparison preserves allelic diversity
Published in Genome Biology (27-12-2022)“…The fundamental challenge of multi-sample structural variant (SV) analysis such as merging and benchmarking is identifying when two SVs are the same. Common…”
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Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk
Published in BMC medical genomics (24-10-2024)“…The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN)…”
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Modeling nonsegmented negative-strand RNA virus (NNSV) transcription with ejective polymerase collisions and biased diffusion
Published in Frontiers in molecular biosciences (09-01-2023)“…Infections by non-segmented negative-strand RNA viruses (NNSV) are widely thought to entail gradient gene expression from the well-established existence of a…”
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Unveiling microbial diversity: harnessing long-read sequencing technology
Published in Nature methods (01-06-2024)“…Long-read sequencing has recently transformed metagenomics, enhancing strain-level pathogen characterization, enabling accurate and complete…”
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Rare Variants in Genes Encoding Subunits of the Epithelial Na + Channel Are Associated With Blood Pressure and Kidney Function
Published in Hypertension (Dallas, Tex. 1979) (01-11-2022)“…The epithelial Na channel (ENaC) is intrinsically linked to fluid volume homeostasis and blood pressure. Specific rare mutations in , , and , genes encoding…”
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Drivers of transcriptional variance in human intestinal epithelial organoids
Published in Physiological genomics (01-11-2021)“…Human intestinal epithelial organoids (enteroids and colonoids) are tissue cultures used for understanding the physiology of the human intestinal epithelium…”
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Fully resolved assembly of Cryptosporidium parvum
Published in Gigascience (15-02-2022)“…Abstract Background Cryptosporidium parvum is an apicomplexan parasite commonly found across many host species with a global infection prevalence in human…”
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Symptomatic and Asymptomatic Cryptosporidium Infections in Children in a Semi-Urban Slum Community in Southern India
Published in The American journal of tropical medicine and hygiene (01-11-2010)“…Cryptosporidium is a leading cause of childhood diarrhea in developing countries. We investigated symptomatic and asymptomatic cryptosporidiosis in 20 children…”
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Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study
Published in Circulation. Genomic and precision medicine (01-08-2023)Get full text
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Sa1914 The Genomic Landscape of Human Colon Adenomas Reveals Early Driver Mutations and a TGF-β-CEA Regulated Profile
Published in Gastroenterology (New York, N.Y. 1943) (01-04-2015)Get full text
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Sa1851 Prognostic Significance of TGF-β Signaling in Human Hepatocellular Carcinoma
Published in Gastroenterology (New York, N.Y. 1943) (01-04-2015)Get full text
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Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine [version 1; peer review: 1 approved, 1 approved with reservations]
Published in F1000 research (2020)“…In October 2019, 46 scientists from around the world participated in the first National Center for Biotechnology Information (NCBI) Structural Variation (SV)…”
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13
Rare Variants in Genes Encoding Subunits of the Epithelial Na+ Channel Are Associated With Blood Pressure and Kidney Function
Published in Hypertension (Dallas, Tex. 1979) (04-10-2022)Get full text
Journal Article -
14
Identification of allele-specific KIV-2 repeats and impact on Lp
Published in BMC medical genomics (24-10-2024)“…The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN)…”
Get full text
Journal Article -
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Abstract 67: Genomic and mutational profiling of human colon adenomas reveals early driver mutations and a TGF-β-CEA regulated profile
Published in Cancer research (Chicago, Ill.) (01-08-2015)“…Abstract Introduction: Colorectal cancer (CRC) is the third most commonly diagnosed cancer in the world with 143,700 newly diagnosed cases in 2012. The rapid…”
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