Search Results - "Metcalf, Ginger A"
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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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The gut mycobiome of the Human Microbiome Project healthy cohort
Published in Microbiome (25-11-2017)“…Most studies describing the human gut microbiome in healthy and diseased states have emphasized the bacterial component, but the fungal microbiome (i.e., the…”
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Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program
Published in Genome medicine (28-03-2022)“…The All of Us Research Program (AoURP, "the program") is an initiative, sponsored by the National Institutes of Health (NIH), that aims to enroll one million…”
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Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study
Published in Human molecular genetics (01-09-2017)“…Oligopeptides are important markers of protein metabolism, as they are cleaved from larger polypeptides and proteins. Genetic association studies may help…”
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Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study
Published in Genetics (Austin) (01-06-2018)“…Small molecule lipid-related metabolites are important components of fatty acid and steroid metabolism-two important contributors to human health. This study…”
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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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Loss-of-function variants influence the human serum metabolome
Published in Science advances (01-08-2016)“…The metabolome is a collection of small molecules resulting from multiple cellular and biological processes that can act as biomarkers of disease, and…”
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Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study
Published in Circulation. Genomic and precision medicine (01-12-2022)“…Routine genome-wide screening for cardiovascular disease risk may inform clinical decision-making. However, little is known about whether clinicians and…”
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Temporal development of the gut microbiome in early childhood from the TEDDY study
Published in Nature (London) (01-10-2018)“…The development of the microbiome from infancy to childhood is dependent on a range of factors, with microbial–immune crosstalk during this time thought to be…”
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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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Structure and function of the healthy pre-adolescent pediatric gut microbiome
Published in Microbiome (26-08-2015)“…The gut microbiome influences myriad host functions, including nutrient acquisition, immune modulation, brain development, and behavior. Although human gut…”
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Leveraging Human Microbiome Features to Diagnose and Stratify Children with Irritable Bowel Syndrome
Published in The Journal of molecular diagnostics : JMD (01-05-2019)“…Accurate diagnosis and stratification of children with irritable bowel syndrome (IBS) remain challenging. Given the central role of recurrent abdominal pain in…”
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Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors
Published in Human molecular genetics (10-09-2022)“…Abstract Plasma levels of fibrinogen, coagulation factors VII and VIII and von Willebrand factor (vWF) are four intermediate phenotypes that are heritable and…”
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14
Whole genome sequence analysis of serum amino acid levels
Published in Genome Biology (24-11-2016)“…Blood levels of amino acids are important biomarkers of disease and are influenced by synthesis, protein degradation, and gene-environment interactions. Whole…”
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Inter and intra-host diversity of RSV in hematopoietic stem cell transplant adults with normal and delayed viral clearance
Published in Virus evolution (2024)“…Abstract Respiratory syncytial virus (RSV) infection in immunocompromised individuals often leads to prolonged illness, progression to severe lower respiratory…”
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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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The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System
Published in JMIR research protocols (26-03-2021)“…Genomic medicine is poised to improve care for common complex diseases such as epilepsy, but additional clinical informatics and implementation science…”
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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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Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation
Published in Thrombosis and haemostasis (2017)“…Inhibition of platelet reactivity is a common therapeutic strategy in secondary prevention of cardiovascular disease. Genetic and environmental factors…”
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Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk
Published in Circulation. Cardiovascular genetics (01-02-2016)“…BACKGROUND—Rare genetic variants influence blood pressure (BP). METHODS AND RESULTS—Whole-exome sequencing was performed on DNA samples from 17 956 individuals…”
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