biomedical and healthCAre Data Discovery Index Ecosystem
biomedical and healthCAre Data Discovery Index Ecosystem
| Title: | Autism Genome Project (AGP) Consortium - Whole Genome Association and Copy Number Variation Study of over 1,500 Parent-Offspring Trios - Stage I
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| availability: |
available
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| aggregation: |
instance of dataset
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| privacy: |
not applicable
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| refinement: |
curated
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| ID: |
phs000267.v1.p1
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| description: |
Autism spectrum disorders (ASDs) are highly heritable (~90%), yet the underlying genetic determinants are largely unknown. To understand the genetic and phenotypic heterogeneity in ASDs, we analyzed over 1,500 strictly defined ASD families with over 1,000,000 single nucleotide polymorphisms (SNPs), and applied multiple analytical strategies to examine these families for SNPs and Copy Number Variation (CNVs) affecting risk for ASDs. Secondary analyses examined associations in more homogenous subgroups. Furthermore, the use of large control datasets permitted contrasting case and control samples and addressed the potential increased burden of rare CNVs in ASD. Our data have allowed us to discern key features of the ASD genomic architecture, find new susceptibility loci, and chart a course for future studies in ASDs. |
| landingpage: | http://www.omicsdi.org/dataset/ega/phs000267.v1.p1 |
| format: |
HTML
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| storedIn: |
EGA
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| qualifier: |
not compressed
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| accessType: |
landing page
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| authorization: |
none
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| authentication: |
none
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| primary: |
true
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| accessURL: | https://www.ebi.ac.uk/ega/studies/phs000267.v1.p1 |
| format: |
JSON
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| storedIn: |
OmicsDI
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| qualifier: |
not compressed
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| accessType: |
download
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| authorization: |
none
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| authentication: |
none
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| primary: |
false
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| accessURL: | www.omicsdi.org/ws/dataset/arrayexpress-repository/phs000267.v1.p1.json |
| format: |
XML
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| storedIn: |
OmicsDI
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| qualifier: |
not compressed
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| accessType: |
download
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| authorization: |
none
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| authentication: |
none
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| primary: |
false
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| accessURL: | http://www.omicsdi.org/ws/dataset/arrayexpress-repository/phs000267.v1.p1.xml |
| ID: |
SCR:014747
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| name: |
Omics Discovery Index
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| abbreviation: |
OmicsDI
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| homePage: | http://www.omicsdi.org/ |
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