3 research outputs found

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    Waterlogging tolerance is associated with root porosity in barley (Hordeum vulgare L.)

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    Tolerance to waterlogging is an important breeding objective for barley (Hordeum vulgare L.); however, it is a complex quantitative trait. It is difficult to screen large numbers of lines in the field due to environmental variability, and it is also challenging to screen large numbers in controlled conditions if yield data are to be collected. The direct measurement of traits that contribute to waterlogging tolerance, such as aerenchyma development in roots, may offer advantages especially if molecular markers can be developed to screen breeding populations. A doubled haploid population from a cross between Franklin and YuYaoXiangTian Erleng was screened for adventitious root porosity (gas-filled volume per unit root volume) as an indicator of aerenchyma formation. A single QTL for root porosity was identified on chromosome 4H which explained 35.7 and 39.0 % of phenotypic variation in aerated and oxygen-deficient conditions, respectively. The nearest marker was EBmac0701. This QTL is located in the same chromosomal region that contributed to tolerance when the same population was screened in an earlier independent soil waterlogging experiment. Comparative mapping revealed that this QTL is syntenic with the Qaer1.02-3 QTL in maize and the Sub1A-1 gene in rice, which are associated with aerenchyma formation (maize) and submergence tolerance (rice), respectively. This is the first report of a QTL for root porosity in barley which elucidates a major mechanism of waterlogging tolerance

    Examining the Impact of the 2019 Novel Coronavirus and Pandemic-Related Hardship on Adverse Pregnancy and Infant Outcomes: Design and Launch of the HOPE COVID-19 Study

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    The 2019 novel coronavirus disease (COVID-19) pandemic caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continues to spread and worsen in many parts of the world. As the pandemic grows, it is especially important to understand how the virus and the pandemic are affecting pregnant women and infants. While early data suggested that being infected with the virus did not increase the risk of adverse pregnancy or infant outcomes, as more information has emerged, it has become clear that risks for some adverse pregnancy and infant outcomes are increased (e.g., preterm birth, cesarean section, respiratory distress, and hospitalization). The Healthy Outcomes of Pregnancy for Everyone in the time of novel coronavirus disease-19 (HOPE COVID-19) study is a multi-year, prospective investigation designed to better understand how the SARS-CoV-2 virus and COVID-19 impact adverse pregnancy and infant outcomes. The study also examines how the pandemic exacerbates existing hardships such as social isolation, economic destabilization, job loss, housing instability, and/or family member sickness or death among minoritized and marginalized communities. Specifically, the study examines how pandemic-related hardships impact clinical outcomes and characterizes the experiences of Black, Latinx and low-income groups compared to those in other race/ethnicity and socioeconomic stratum. The study includes two nested cohorts. The survey only cohort will enroll 7500 women over a two-year period. The survey+testing cohort will enroll 2500 women over this same time period. Participants in both cohorts complete short surveys daily using a mobile phone application about COVID-19-related symptoms (e.g., fever and cough) and complete longer surveys once during each trimester and at 6–8 weeks and 6, 12 and 18 months after delivery that focus on the health and well-being of mothers and, after birth, of infants. Participants in the survey+testing cohort also have testing for SARS-CoV-2 and related antibodies during pregnancy and after birth as well as testing that looks at inflammation and for the presence of other infections like Influenza and Rhinovirus. Study results are expected to be reported on a rolling basis and will include quarterly reporting for participants and public health partners as well as more traditional scientific reporting
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