Search Results - "Polanco, Tommy"
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Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection
Published in Proceedings of the National Academy of Sciences - PNAS (24-05-2022)“…Human genomic diversity has been shaped by both ancient and ongoing challenges from viruses. The current coronavirus disease 2019 (COVID-19) pandemic caused by…”
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Thrombotic risk determined by rare and common SERPINA1 variants in a population‐based cohort study
Published in Journal of thrombosis and haemostasis (01-06-2022)“…Background Severe alpha‐1‐antitrypsin deficiency (AATD), phenotype PiZZ, was associated with venous thromboembolism (VTE) in a case‐control study. Objectives…”
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Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank
Published in Genetics in medicine (01-03-2022)“…Genome-wide association studies have identified hundreds of single nucleotide variations (formerly single nucleotide polymorphisms) associated with several…”
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Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
Published in Nature genetics (01-03-2022)“…[...]exome sequencing-which is focused on the protein-coding regions of the genome-may directly implicate genes in phenotype variability through burden testing…”
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Classic Thrombophilias and Thrombotic Risk Among Middle-Aged and Older Adults: A Population-Based Cohort Study
Published in Journal of the American Heart Association (15-02-2022)“…Background Five classic thrombophilias have been recognized: factor V Leiden (rs6025), the prothrombin G20210A variant (rs1799963), and protein C, protein S,…”
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Thrombotic Risk Determined by STAB 2 Variants in a Population-Based Cohort Study
Published in Circulation. Genomic and precision medicine (01-10-2021)Get full text
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PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients
Published in Genetics in Medicine Open (2024)“…This study investigates the frequency of a clinically reported variant in PMS2, NM_000535.7:c.2523G>A p.(W841∗), from next-generation sequencing studies in 2…”
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Genetic variation of the blood coagulation regulator tissue factor pathway inhibitor and venous thromboembolism among middle‐aged and older adults: A population‐based cohort study
Published in Research and practice in thrombosis and haemostasis (01-10-2022)“…Tissue factor is the main initiator of blood coagulation, and tissue factor pathway inhibitor (TFPI) is the primary inhibitor of the initiation of blood…”
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