13 research outputs found

    52 Genetic Loci Influencing Myocardial Mass.

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    BACKGROUND: Myocardial mass is a key determinant of cardiac muscle function and hypertrophy. Myocardial depolarization leading to cardiac muscle contraction is reflected by the amplitude and duration of the QRS complex on the electrocardiogram (ECG). Abnormal QRS amplitude or duration reflect changes in myocardial mass and conduction, and are associated with increased risk of heart failure and death. OBJECTIVES: This meta-analysis sought to gain insights into the genetic determinants of myocardial mass. METHODS: We carried out a genome-wide association meta-analysis of 4 QRS traits in up to 73,518 individuals of European ancestry, followed by extensive biological and functional assessment. RESULTS: We identified 52 genomic loci, of which 32 are novel, that are reliably associated with 1 or more QRS phenotypes at p < 1 × 10(-8). These loci are enriched in regions of open chromatin, histone modifications, and transcription factor binding, suggesting that they represent regions of the genome that are actively transcribed in the human heart. Pathway analyses provided evidence that these loci play a role in cardiac hypertrophy. We further highlighted 67 candidate genes at the identified loci that are preferentially expressed in cardiac tissue and associated with cardiac abnormalities in Drosophila melanogaster and Mus musculus. We validated the regulatory function of a novel variant in the SCN5A/SCN10A locus in vitro and in vivo. CONCLUSIONS: Taken together, our findings provide new insights into genes and biological pathways controlling myocardial mass and may help identify novel therapeutic targets

    Chromosomal breakpoint reuse in genome sequence rearrangement

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    In order to apply gene-order rearrangement algorithms to the comparison of genome sequences, Pevzner and Tesler bypass gene finding and ortholog identification and use the order of homologous blocks of unannotated sequence as input. The method excludes blocks shorter than a threshold length. Here we investigate possible biases introduced by eliminating short blocks, focusing on the notion of breakpoint reuse introduced by these authors. Analytic and simulation methods show that reuse is very sensitive to the proportion of blocks excluded. As is pertinent to the comparison of mammalian genomes, this exclusion risks randomizing the comparison partially or entirely. Key words: comparative genomics, rearrangements, Hannenhalli–Pevzner algorithm, breakpoints, synteny blocks. 1

    Rockwood Identity Project

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    The Rockwood Identity Atlas is a data collection initiative that aims provide the Rockwood Community Development Corporation (CDC) with information about the community it serves. Through maps, data, and stories that highlight the identity, geography, and living conditions of the Rockwood community, this atlas aims to support Rockwood CDC and partner organizations better understand the challenges and opportunities facing the neighborhood. Although the atlas is an attempt to synthesize a more unified narrative about the identity of Rockwood, the report can be viewed in three distinct sections. We explored the three sections in three phases during March-May 2021: Phase I: Existing Conditions Analysis Phase II: Community Engagement & Asset Mapping Phase II: Rockwood Community Actionable Strategies The first section is an exploration of social, economic, and health data. The second section details the outcomes of public outreach, focus group interviews, and community asset mapping with Rockwood residents. The third section presents a review of relevant policies and makes recommendations that relate to the findings in the first two sections. Together, the three sections aim to tell a story of where Rockwood is in relation to Multnomah County and Oregon statewide, what Rockwood residents think of their community, and how Rockwood CDC and partner organizations might approach the opportunities and challenges facing the neighborhood

    Options for Zonation and Grid Integration of Offshore Wind in Vietnam

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    To unlock more than 400 GW potential of offshore wind in Vietnam, this study presents possible options for zonation and grid integration from now till 2030. We identified four potential zones along the national coast line for offshore wind development by assessing the technical resource areas based on wind speed and variation, ports, synchronous power plants, oil and gas infrastructures, shipping routes, and sensitive sea areas. We then investigate the capability to integrate wind capacity regarding the transmission expansion plan in the period 2020–2030 by calculating generation adequacy and transmission adequacy. The results specify a possible path for the development of offshore wind which balances out the onshore grid capacity with the quantified capacity from four different wind resource zones. By calculating the loss of load probability with various penetration levels of offshore wind, we find out that 10.5 GW of offshore wind by 2030, spreading across four zones, makes an adequate reliable power supply
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