Search Results - "Grzymski, Joseph J"
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Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
Published in Nature communications (28-01-2020)“…Understanding the impact of rare variants is essential to understanding human health. We analyze rare (MAF < 0.1%) variants against 4264 phenotypes in 49,960…”
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The significance of nitrogen cost minimization in proteomes of marine microorganisms
Published in The ISME Journal (01-01-2012)“…Marine microorganisms thrive under low levels of nitrogen (N). N cost minimization is a major selective pressure imprinted on open-ocean microorganism genomes…”
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Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
Published in European journal of human genetics : EJHG (01-05-2023)“…We multiply ascertained the BRCA1 pathogenic missense variant c.5207T > C; p.Val1736Ala (V1736A) in clinical investigation of breast and ovarian cancer…”
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The Impact of ACEs on BMI: An Investigation of the Genotype-Environment Effects of BMI
Published in Frontiers in genetics (07-03-2022)“…Adverse Childhood Experiences are stressful and traumatic events occurring before the age of eighteen shown to cause mental and physical health problems,…”
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Diversity and genomics of Antarctic marine micro-organisms
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (29-12-2007)“…Marine bacterioplanktons are thought to play a vital role in Southern Ocean ecology and ecosystem function, as they do in other ocean systems. However, our…”
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GWAS and PheWAS of red blood cell components in a Northern Nevadan cohort
Published in PloS one (13-06-2019)“…In this study, we perform a full genome-wide association study (GWAS) to identify statistically significantly associated single nucleotide polymorphisms (SNPs)…”
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HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination
Published in HGG advances (14-04-2022)“…COVID-19 vaccines are safe and highly effective, but some individuals experience unpleasant reactions to vaccination. As the majority of adults in the United…”
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Using phenome-wide association studies and the SF-12 quality of life metric to identify profound consequences of adverse childhood experiences on adult mental and physical health in a Northern Nevadan population
Published in Frontiers in psychiatry (06-10-2022)“…In this research, we examine and identify the implications of Adverse Childhood Experiences (ACEs) on a range of health outcomes, with particular focus on a…”
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A Comprehensive Genome-Wide and Phenome-Wide Examination of BMI and Obesity in a Northern Nevadan Cohort
Published in G3 : genes - genomes - genetics (01-02-2020)“…The aggregation of Electronic Health Records (EHR) and personalized genetics leads to powerful discoveries relevant to population health. Here we perform…”
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The common oceanographer: crowdsourcing the collection of oceanographic data
Published in PLoS biology (01-10-2014)“… Funding: The authors acknowledge financial support from the School of BABS (University of New South Wales), the ithree Institute (University of Technology…”
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Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record
Published in Frontiers in genetics (27-04-2022)“…The clinical value of population-based genetic screening projects depends on the actions taken on the findings. The Healthy Nevada Project (HNP) is an…”
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Genome Sequence of Psychrobacter arcticus 273-4, a Psychroactive Siberian Permafrost Bacterium, Reveals Mechanisms for Adaptation to Low-Temperature Growth
Published in Applied and Environmental Microbiology (01-04-2010)“…Psychrobacter arcticus strain 273-4, which grows at temperatures as low as -10°C, is the first cold-adapted bacterium from a terrestrial environment whose…”
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Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population
Published in Frontiers in genetics (02-03-2021)“…Clinical conditions correlated with elevated triglyceride levels are well-known: coronary heart disease, hypertension, and diabetes. Underlying genetic and…”
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Resource Concentration Modulates the Fate of Dissimilated Nitrogen in a Dual-Pathway Actinobacterium
Published in Frontiers in microbiology (22-01-2019)“…Respiratory ammonification and denitrification are two evolutionarily unrelated dissimilatory nitrogen (N) processes central to the global N cycle, the…”
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A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein
Published in HGG advances (18-07-2024)“…Systematic determination of novel variant pathogenicity remains a major challenge, even when there is an established association between a gene and phenotype…”
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A Real-Time Multiplexed Microbial Growth Intervalometer for Capturing High-Resolution Growth Curves
Published in Frontiers in microbiology (05-06-2019)“…Batch cultures are a low maintenance and routine culturing method in microbiology. Automated tools that measure growth curves from microorganisms grown in…”
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Metagenome analysis of an extreme microbial symbiosis reveals eurythermal adaptation and metabolic flexibility
Published in Proceedings of the National Academy of Sciences - PNAS (11-11-2008)“…Hydrothermal vent ecosystems support diverse life forms, many of which rely on symbiotic associations to perform functions integral to survival in these…”
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Protein languages differ depending on microorganism lifestyle
Published in PloS one (14-05-2014)“…Few quantitative measures of genome architecture or organization exist to support assumptions of differences between microorganisms that are broadly defined as…”
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Microbial biodiversity of thermophilic communities in hot mineral soils of Tramway Ridge, Mount Erebus, Antarctica
Published in Environmental microbiology (01-03-2009)“…Tramway Ridge, located near the summit of Mount Erebus in Antarctica, is probably the most remote geothermal soil habitat on Earth. Steam fumaroles maintain…”
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The Anti-Oxidant Defense System of the Marine Polar Ciliate Euplotes nobilii: Characterization of the MsrB Gene Family
Published in Biology (Basel, Switzerland) (18-01-2017)“…Organisms living in polar waters must cope with an extremely stressful environment dominated by freezing temperatures, high oxygen concentrations and UV…”
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