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RegistriesOverlap
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RegistriesOverlap/data/re3dataRecords/r3d100012122.xml

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