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  • Computer Programming and Software  (8)
  • Oligonucleotide Array Sequence Analysis  (3)
  • 2005-2009  (11)
  • 1
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    A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter (2006)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2006-05-27
    Description: We describe a pathogenetic mechanism underlying a variant form of the inherited blood disorder alpha thalassemia. Association studies of affected individuals from Melanesia localized the disease trait to the telomeric region of human chromosome 16, which includes the alpha-globin gene cluster, but no molecular defects were detected by conventional approaches. After resequencing and using a combination of chromatin immunoprecipitation and expression analysis on a tiled oligonucleotide array, we identified a gain-of-function regulatory single-nucleotide polymorphism (rSNP) in a nongenic region between the alpha-globin genes and their upstream regulatory elements. The rSNP creates a new promoterlike element that interferes with normal activation of all downstream alpha-like globin genes. Thus, our work illustrates a strategy for distinguishing between neutral and functionally important rSNPs, and it also identifies a pathogenetic mechanism that could potentially underlie other genetic diseases.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉De Gobbi, Marco -- Viprakasit, Vip -- Hughes, Jim R -- Fisher, Chris -- Buckle, Veronica J -- Ayyub, Helena -- Gibbons, Richard J -- Vernimmen, Douglas -- Yoshinaga, Yuko -- de Jong, Pieter -- Cheng, Jan-Fang -- Rubin, Edward M -- Wood, William G -- Bowden, Don -- Higgs, Douglas R -- MC_U137961143/Medical Research Council/United Kingdom -- MC_U137961145/Medical Research Council/United Kingdom -- MC_U137961147/Medical Research Council/United Kingdom -- New York, N.Y. -- Science. 2006 May 26;312(5777):1215-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16728641" target="_blank"〉PubMed〈/a〉
    Keywords: Binding Sites ; Cells, Cultured ; Chromatin Immunoprecipitation ; Chromosomes, Human, Pair 16/*genetics ; Erythroblasts ; GATA1 Transcription Factor/metabolism ; Gene Expression ; Gene Expression Profiling ; Globins/*genetics ; Haplotypes ; Humans ; Melanesia ; Minisatellite Repeats ; Multigene Family ; Oligonucleotide Array Sequence Analysis ; *Polymorphism, Single Nucleotide ; *Promoter Regions, Genetic ; Regulatory Elements, Transcriptional ; Transcription, Genetic ; alpha-Thalassemia/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes (2005)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2005-09-24
    Description: Aneuploidies are common chromosomal defects that result in growth and developmental deficits and high levels of lethality in humans. To gain insight into the biology of aneuploidies, we manipulated mouse embryonic stem cells and generated a trans-species aneuploid mouse line that stably transmits a freely segregating, almost complete human chromosome 21 (Hsa21). This "transchromosomic" mouse line, Tc1, is a model of trisomy 21, which manifests as Down syndrome (DS) in humans, and has phenotypic alterations in behavior, synaptic plasticity, cerebellar neuronal number, heart development, and mandible size that relate to human DS. Transchromosomic mouse lines such as Tc1 may represent useful genetic tools for dissecting other human aneuploidies.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1378183/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1378183/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉O'Doherty, Aideen -- Ruf, Sandra -- Mulligan, Claire -- Hildreth, Victoria -- Errington, Mick L -- Cooke, Sam -- Sesay, Abdul -- Modino, Sonie -- Vanes, Lesley -- Hernandez, Diana -- Linehan, Jacqueline M -- Sharpe, Paul T -- Brandner, Sebastian -- Bliss, Timothy V P -- Henderson, Deborah J -- Nizetic, Dean -- Tybulewicz, Victor L J -- Fisher, Elizabeth M C -- 076700/Wellcome Trust/United Kingdom -- MC_U117512674/Medical Research Council/United Kingdom -- New York, N.Y. -- Science. 2005 Sep 23;309(5743):2033-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London WC1N 3BG, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16179473" target="_blank"〉PubMed〈/a〉
    Keywords: *Aneuploidy ; Animals ; Behavior, Animal ; Brain/pathology ; Cell Count ; Cell Line ; Chimera ; *Chromosomes, Human, Pair 21 ; *Disease Models, Animal ; *Down Syndrome/genetics/physiopathology ; Embryo, Mammalian/cytology ; Facial Bones/pathology ; Female ; Gene Expression ; *Genetic Engineering ; Genetic Markers ; Heart Defects, Congenital/embryology ; Hippocampus/physiopathology ; Humans ; Long-Term Potentiation ; Lymphocyte Activation ; Male ; Maze Learning ; Memory ; Mice ; Mice, Inbred Strains ; *Mice, Transgenic ; Neurons/cytology ; Oligonucleotide Array Sequence Analysis ; Phenotype ; Skull/pathology ; Stem Cells ; Synaptic Transmission ; T-Lymphocytes/immunology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 3
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    Species-specific transcription in mice carrying human chromosome 21 (2008)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2008-09-13
    Description: Homologous sets of transcription factors direct conserved tissue-specific gene expression, yet transcription factor-binding events diverge rapidly between closely related species. We used hepatocytes from an aneuploid mouse strain carrying human chromosome 21 to determine, on a chromosomal scale, whether interspecies differences in transcriptional regulation are primarily directed by human genetic sequence or mouse nuclear environment. Virtually all transcription factor-binding locations, landmarks of transcription initiation, and the resulting gene expression observed in human hepatocytes were recapitulated across the entire human chromosome 21 in the mouse hepatocyte nucleus. Thus, in homologous tissues, genetic sequence is largely responsible for directing transcriptional programs; interspecies differences in epigenetic machinery, cellular environment, and transcription factors themselves play secondary roles.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3717767/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3717767/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Wilson, Michael D -- Barbosa-Morais, Nuno L -- Schmidt, Dominic -- Conboy, Caitlin M -- Vanes, Lesley -- Tybulewicz, Victor L J -- Fisher, Elizabeth M C -- Tavare, Simon -- Odom, Duncan T -- 080174/Wellcome Trust/United Kingdom -- 15603/Cancer Research UK/United Kingdom -- 202218/European Research Council/International -- A15603/Cancer Research UK/United Kingdom -- G0601056/Medical Research Council/United Kingdom -- MC_U117527252/Medical Research Council/United Kingdom -- Medical Research Council/United Kingdom -- Wellcome Trust/United Kingdom -- New York, N.Y. -- Science. 2008 Oct 17;322(5900):434-8. doi: 10.1126/science.1160930. Epub 2008 Sep 11.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Cancer Research UK, Cambridge Research Institute, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18787134" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Base Sequence ; Cell Nucleus/metabolism ; Chromatin Assembly and Disassembly ; Chromatin Immunoprecipitation ; Chromosomes, Human, Pair 21/*genetics/metabolism ; Disease Models, Animal ; Down Syndrome/genetics ; *Gene Expression Regulation ; Hepatocyte Nuclear Factors/*metabolism ; Hepatocytes/*metabolism ; Histones/metabolism ; Humans ; Methylation ; Mice ; Oligonucleotide Array Sequence Analysis ; *Regulatory Sequences, Nucleic Acid ; Species Specificity ; Transcription Initiation Site ; *Transcription, Genetic
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 4
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    ABM Drag_Pass Report Generator (2008)
    In:  CASI
    Details
    Publication Date: 2019-07-12
    Description: dragREPORT software was developed in parallel with abmREPORT, which is described in the preceding article. Both programs were built on the capabilities created during that process. This tool generates a drag_pass report that summarizes vital information from the MRO aerobreaking drag_pass build process to facilitate both sequence reviews and provide a high-level summarization of the sequence for mission management. The script extracts information from the ENV, SSF, FRF, SCMFmax, and OPTG files, presenting them in a single, easy-to-check report providing the majority of parameters needed for cross check and verification as part of the sequence review process. Prior to dragReport, all the needed information was spread across a number of different files, each in a different format. This software is a Perl script that extracts vital summarization information and build-process details from a number of source files into a single, concise report format used to aid the MPST sequence review process and to provide a high-level summarization of the sequence for mission management reference. This software could be adapted for future aerobraking missions to provide similar reports, review and summarization information.
    Keywords: Computer Programming and Software
    Type: NPO-44384 , NASA Tech Briefs, June 2008; 15
    Format: application/pdf
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  • 5
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    Aerobraking Maneuver (ABM) Report Generator (2008)
    In:  CASI
    Details
    Publication Date: 2019-07-12
    Description: abmREPORT Version 3.1 is a Perl script that extracts vital summarization information from the Mars Reconnaissance Orbiter (MRO) aerobraking ABM build process. This information facilitates sequence reviews, and provides a high-level summarization of the sequence for mission management. The script extracts information from the ENV, SSF, FRF, SCMFmax, and OPTG files and burn magnitude configuration files and presents them in a single, easy-to-check report that provides the majority of the parameters necessary for cross check and verification during the sequence review process. This means that needed information, formerly spread across a number of different files and each in a different format, is all available in this one application. This program is built on the capabilities developed in dragReport and then the scripts evolved as the two tools continued to be developed in parallel.
    Keywords: Computer Programming and Software
    Type: NPO-44382 , NASA Tech Briefs, June 2008; 15
    Format: application/pdf
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  • 6
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    Mars Reconnaissance Orbiter Uplink Analysis Tool (2008)
    In:  CASI
    Details
    Publication Date: 2019-07-12
    Description: This software analyzes Mars Reconnaissance Orbiter (MRO) orbital geometry with respect to Mars Exploration Rover (MER) contact windows, and is the first tool of its kind designed specifically to support MRO-MER interface coordination. Prior to this automated tool, this analysis was done manually with Excel and the UNIX command line. In total, the process would take approximately 30 minutes for each analysis. The current automated analysis takes less than 30 seconds. This tool resides on the flight machine and uses a PHP interface that does the entire analysis of the input files and takes into account one-way light time from another input file. Input flies are copied over to the proper directories and are dynamically read into the tool s interface. The user can then choose the corresponding input files based on the time frame desired for analysis. After submission of the Web form, the tool merges the two files into a single, time-ordered listing of events for both spacecraft. The times are converted to the same reference time (Earth Transmit Time) by reading in a light time file and performing the calculations necessary to shift the time formats. The program also has the ability to vary the size of the keep-out window on the main page of the analysis tool by inputting a custom time for padding each MRO event time. The parameters on the form are read in and passed to the second page for analysis. Everything is fully coded in PHP and can be accessed by anyone with access to the machine via Web page. This uplink tool will continue to be used for the duration of the MER mission's needs for X-band uplinks. Future missions also can use the tools to check overflight times as well as potential site observation times. Adaptation of the input files to the proper format, and the window keep-out times, would allow for other analyses. Any operations task that uses the idea of keep-out windows will have a use for this program.
    Keywords: Computer Programming and Software
    Type: NPO-44222 , NASA Tech Briefs, June 2008; 16
    Format: application/pdf
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  • 7
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    Replacement Sequence of Events Generator (2008)
    In:  CASI
    Details
    Publication Date: 2019-07-12
    Description: The soeWINDOW program automates the generation of an ITAR (International Traffic in Arms Regulations)-compliant sub-RSOE (Replacement Sequence of Events) by extracting a specified temporal window from an RSOE while maintaining page header information. RSOEs contain a significant amount of information that is not ITAR-compliant, yet that foreign partners need to see for command details to their instrument, as well as the surrounding commands that provide context for validation. soeWINDOW can serve as an example of how command support products can be made ITAR-compliant for future missions. This software is a Perl script intended for use in the mission operations UNIX environment. It is designed for use to support the MRO (Mars Reconnaissance Orbiter) instrument team. The tool also provides automated DOM (Distributed Object Manager) storage into the special ITAR-okay DOM collection, and can be used for creating focused RSOEs for product review by any of the MRO teams.
    Keywords: Computer Programming and Software
    Type: NPO-44392 , NASA Tech Briefs, June 2008; 17
    Format: application/pdf
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  • 8
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    Mars Reconnaissance Orbiter Wrapper Script (2008)
    In:  CASI
    Details
    Publication Date: 2019-07-12
    Description: The MRO OLVM wrapper script software allows Mars Reconnaissance Orbiter (MRO) sequence and spacecraft engineers to rapidly simulate a spacecraft command product through a tool that simulates the onboard sequence management software (OLVM). This script parses sequence files to determine the appropriate time boundaries for the sequence, and constructs the script file to be executed by OLVM to span the entirety of the designated sequence. It then constructs script files to be executed by OLVM, constructs the appropriate file directories, populates these directories with needed input files, initiates OLVM to simulate the actual command product that will be sent to the spacecraft, and captures the results of the simulation run to an external file for later review. Additionally, the tool allows a user to manually construct the script, if desired, and then execute the script with a simple command line.
    Keywords: Computer Programming and Software
    Type: NPO-45242 , NASA Tech Briefs, September 2008; 63
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  • 9
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    Converting from DDOR SASF to APF (2008)
    In:  CASI
    Details
    Publication Date: 2019-07-12
    Description: A computer program called ddor_sasf2apf converts delta-door (delta differential one-way range) request from an SASF (spacecraft activity sequence file) format to an APF (apgen plan file) format for use in the Mars Reconnaissance Orbiter (MRO) missionplanning- and-sequencing process. The APF is used as an input to APGEN/AUTOGEN in the MRO activity- planning and command-sequencegenerating process to sequence the delta-door (DDOR) activity. The DDOR activity is a spacecraft tracking technique for determining spacecraft location. The input to ddor_sasf2apf is an input request SASF provided by an observation team that utilizes DDOR. ddor_sasf2apf parses this DDOR SASF input, rearranging parameters and reformatting the request to produce an APF file for use in AUTOGEN and/or APGEN. The benefit afforded by ddor_sasf2apf is to enable the use of the DDOR SASF file earlier in the planning stage of the command-sequence-generating process and to produce sequences, optimized for DDOR operations, that are more accurate and more robust than would otherwise be possible.
    Keywords: Computer Programming and Software
    Type: NPO-45413 , NASA Tech Briefs, November 2008; 15
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  • 10
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    Deriving Safety Cases from Machine-Generated Proofs (2009)
    In:  CASI
    Details
    Publication Date: 2019-07-13
    Description: Proofs provide detailed justification for the validity of claims and are widely used in formal software development methods. However, they are often complex and difficult to understand, because they use machine-oriented formalisms; they may also be based on assumptions that are not justified. This causes concerns about the trustworthiness of using formal proofs as arguments in safety-critical applications. Here, we present an approach to develop safety cases that correspond to formal proofs found by automated theorem provers and reveal the underlying argumentation structure and top-level assumptions. We concentrate on natural deduction proofs and show how to construct the safety cases by covering the proof tree with corresponding safety case fragments.
    Keywords: Computer Programming and Software
    Type: ARC-E-DAA-TN773 , Workshop on Proof-Carrying Code and Software; Aug 15, 2009; Los Angeles, CA; United States
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