130 lines
10 KiB
XML
130 lines
10 KiB
XML
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<?xml version="1.0" encoding="utf-8"?>
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<!--re3data.org Schema for the Description of Research Data Repositories. Version 2.2, December 2014. doi:10.2312/re3.006-->
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<r3d:re3data xmlns:r3d="http://www.re3data.org/schema/2-2" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:schemaLocation="http://www.re3data.org/schema/2-2 http://schema.re3data.org/2-2/re3dataV2-2.xsd">
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<r3d:repository>
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<r3d:re3data.orgIdentifier>r3d100012122</r3d:re3data.orgIdentifier>
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<r3d:repositoryName language="eng">ExAC Browser</r3d:repositoryName>
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<r3d:additionalName language="eng">Exome Aggregation Consortium Browser</r3d:additionalName>
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<r3d:repositoryURL>http://exac.broadinstitute.org/</r3d:repositoryURL>
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<r3d:repositoryIdentifier>OMICS_14216</r3d:repositoryIdentifier>
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<r3d:repositoryIdentifier>RRID:SCR_004068</r3d:repositoryIdentifier>
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<r3d:repositoryIdentifier>RRID:nlx_158505</r3d:repositoryIdentifier>
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<r3d:repositoryIdentifier>biodbcore-001219</r3d:repositoryIdentifier>
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<r3d:description language="eng">The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a wide variety of large-scale sequencing projects, and to make summary data available for the wider scientific community.
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The data set provided on this website spans 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies.</r3d:description>
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<r3d:repositoryContact>exomeconsortium@gmail.com</r3d:repositoryContact>
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<r3d:repositoryContact>http://exac.broadinstitute.org/contact</r3d:repositoryContact>
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<r3d:type>disciplinary</r3d:type>
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<r3d:size updated="2018-01-18">60.706 unrelated individuals</r3d:size>
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<r3d:startDate></r3d:startDate>
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<r3d:endDate></r3d:endDate>
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<r3d:repositoryLanguage>eng</r3d:repositoryLanguage>
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<r3d:subject subjectScheme="DFG">2 Life Sciences</r3d:subject>
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<r3d:subject subjectScheme="DFG">201 Basic Biological and Medical Research</r3d:subject>
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<r3d:subject subjectScheme="DFG">20103 Cell Biology</r3d:subject>
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<r3d:subject subjectScheme="DFG">20104 Structural Biology</r3d:subject>
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<r3d:subject subjectScheme="DFG">20105 General Genetics</r3d:subject>
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<r3d:subject subjectScheme="DFG">204 Microbiology, Virology and Immunology</r3d:subject>
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<r3d:subject subjectScheme="DFG">205 Medicine</r3d:subject>
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<r3d:subject subjectScheme="DFG">21 Biology</r3d:subject>
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<r3d:subject subjectScheme="DFG">22 Medicine</r3d:subject>
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<r3d:missionStatementURL>http://exac.broadinstitute.org/about</r3d:missionStatementURL>
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<r3d:contentType contentTypeScheme="parse">Images</r3d:contentType>
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<r3d:contentType contentTypeScheme="parse">Scientific and statistical data formats</r3d:contentType>
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<r3d:contentType contentTypeScheme="parse">Standard office documents</r3d:contentType>
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<r3d:contentType contentTypeScheme="parse">Structured graphics</r3d:contentType>
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<r3d:contentType contentTypeScheme="parse">Structured text</r3d:contentType>
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<r3d:contentType contentTypeScheme="parse">other</r3d:contentType>
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<r3d:providerType>dataProvider</r3d:providerType>
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<r3d:keyword>Copy Number Variation (CNV)</r3d:keyword>
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<r3d:keyword>GATK Variant Quality Score Recalibration (VQSR)</r3d:keyword>
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<r3d:keyword>GRCh37/hg19</r3d:keyword>
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<r3d:keyword>cancer</r3d:keyword>
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<r3d:keyword>exome</r3d:keyword>
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<r3d:keyword>genotype</r3d:keyword>
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<r3d:keyword>high-throughput sequencing (HTS)</r3d:keyword>
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<r3d:keyword>phenotype</r3d:keyword>
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<r3d:keyword>tumor</r3d:keyword>
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<r3d:institution>
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<r3d:institutionName language="eng">Broad Institute</r3d:institutionName>
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<r3d:institutionAdditionalName language="eng">Eli and Edythe L. Broad Institute</r3d:institutionAdditionalName>
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<r3d:institutionCountry>USA</r3d:institutionCountry>
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<r3d:responsibilityType>general</r3d:responsibilityType>
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<r3d:responsibilityType>technical</r3d:responsibilityType>
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<r3d:institutionType>non-profit</r3d:institutionType>
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<r3d:institutionURL>https://www.broadinstitute.org/</r3d:institutionURL>
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<r3d:institutionIdentifier>RRID:SCR_007073</r3d:institutionIdentifier>
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<r3d:institutionIdentifier>RRID:nif-0000-31438</r3d:institutionIdentifier>
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<r3d:responsibilityStartDate></r3d:responsibilityStartDate>
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<r3d:responsibilityEndDate></r3d:responsibilityEndDate>
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<r3d:institutionContact>https://www.broadinstitute.org/contact</r3d:institutionContact>
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</r3d:institution>
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<r3d:institution>
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<r3d:institutionName language="eng">Exome Aggregation Consortium</r3d:institutionName>
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<r3d:institutionAdditionalName language="eng">ExAC</r3d:institutionAdditionalName>
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<r3d:institutionCountry>AAA</r3d:institutionCountry>
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<r3d:responsibilityType>general</r3d:responsibilityType>
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<r3d:institutionType>non-profit</r3d:institutionType>
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<r3d:institutionURL>http://exac.broadinstitute.org/about</r3d:institutionURL>
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<r3d:responsibilityStartDate></r3d:responsibilityStartDate>
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<r3d:responsibilityEndDate></r3d:responsibilityEndDate>
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</r3d:institution>
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<r3d:institution>
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<r3d:institutionName language="eng">National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases</r3d:institutionName>
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<r3d:institutionAdditionalName language="eng">NIH NIDDK</r3d:institutionAdditionalName>
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<r3d:institutionCountry>USA</r3d:institutionCountry>
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<r3d:responsibilityType>funding</r3d:responsibilityType>
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<r3d:institutionType>non-profit</r3d:institutionType>
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<r3d:institutionURL>https://www.niddk.nih.gov/</r3d:institutionURL>
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<r3d:responsibilityStartDate></r3d:responsibilityStartDate>
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<r3d:responsibilityEndDate></r3d:responsibilityEndDate>
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<r3d:institutionContact>https://www.niddk.nih.gov/about-niddk/contact-us</r3d:institutionContact>
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</r3d:institution>
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<r3d:institution>
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<r3d:institutionName language="eng">National Institutes of Health, National Institute of General Medical Sciences</r3d:institutionName>
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<r3d:institutionAdditionalName language="eng">NIH NIGMS</r3d:institutionAdditionalName>
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<r3d:institutionCountry>USA</r3d:institutionCountry>
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<r3d:responsibilityType>funding</r3d:responsibilityType>
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<r3d:institutionType>non-profit</r3d:institutionType>
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<r3d:institutionURL>https://www.nigms.nih.gov/Pages/default.aspx</r3d:institutionURL>
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<r3d:responsibilityStartDate></r3d:responsibilityStartDate>
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<r3d:responsibilityEndDate></r3d:responsibilityEndDate>
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<r3d:institutionContact>https://www.nigms.nih.gov/Pages/ContactUs.aspx</r3d:institutionContact>
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</r3d:institution>
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<r3d:policy>
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<r3d:policyName>Fort Lauerdale Agreement - Sharing Data from Large-scale
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Biological Research Projects</r3d:policyName>
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<r3d:policyURL>https://www.genome.gov/pages/research/wellcomereport0303.pdf</r3d:policyURL>
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</r3d:policy>
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<r3d:policy>
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<r3d:policyName>GATK Best Practices</r3d:policyName>
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<r3d:policyURL>https://software.broadinstitute.org/gatk/best-practices/</r3d:policyURL>
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</r3d:policy>
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<r3d:policy>
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<r3d:policyName>Terms and Data Information</r3d:policyName>
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<r3d:policyURL>http://exac.broadinstitute.org/terms</r3d:policyURL>
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</r3d:policy>
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<r3d:databaseAccess>
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<r3d:databaseAccessType>open</r3d:databaseAccessType>
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</r3d:databaseAccess>
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<r3d:dataAccess>
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<r3d:dataAccessType>open</r3d:dataAccessType>
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</r3d:dataAccess>
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<r3d:dataLicense>
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<r3d:dataLicenseName>ODC</r3d:dataLicenseName>
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<r3d:dataLicenseURL>https://opendatacommons.org/licenses/odbl/1.0/</r3d:dataLicenseURL>
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</r3d:dataLicense>
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<r3d:dataUpload>
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<r3d:dataUploadType>closed</r3d:dataUploadType>
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</r3d:dataUpload>
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<r3d:versioning>yes</r3d:versioning>
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<r3d:api apiType="FTP">ftp://ftp.broadinstitute.org/pub/ExAC_release</r3d:api>
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<r3d:pidSystem>none</r3d:pidSystem>
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<r3d:citationGuidelineURL>http://exac.broadinstitute.org/terms</r3d:citationGuidelineURL>
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<r3d:enhancedPublication>unknown</r3d:enhancedPublication>
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<r3d:qualityManagement>unknown</r3d:qualityManagement>
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<r3d:remarks></r3d:remarks>
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<r3d:entryDate>2016-08-18</r3d:entryDate>
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<r3d:lastUpdate>2021-09-08</r3d:lastUpdate>
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</r3d:repository>
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</r3d:re3data>
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