52 research outputs found

    Review of Issues Associated with Safe Operation and Management of the Space Shuttle Program

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    At the request of the President of the United States through the Office of Science and Technology Policy (OSTP), the NASA Administrator tasked the Aerospace Safety Advisory Panel with the responsibility to identify and review issues associated with the safe operation and management of the Space Shuttle program arising from ongoing efforts to improve and streamline operations. These efforts include the consolidation of operations under a single Space Flight Operations Contract (SFOC), downsizing the Space Shuttle workforce and reducing costs of operations and management. The Panel formed five teams to address the potentially significant safety impacts of the seven specific topic areas listed in the study Terms of Reference. These areas were (in the order in which they are presented in this report): Maintenance of independent safety oversight; implementation plan for the transition of Shuttle program management to the Lead Center; communications among NASA Centers and Headquarters; transition plan for downsizing to anticipated workforce levels; implementation of a phased transition to a prime contractor for operations; Shuttle flight rate for Space Station assembly; and planned safety and performance upgrades for Space Station assembly. The study teams collected information through briefings, interviews, telephone conversations and from reviewing applicable documentation. These inputs were distilled by each team into observations and recommendations which were then reviewed by the entire Panel

    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

    Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

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    Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice
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