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ID
45006
Description
Principal Investigator: Eric Lander, Broad Institute, Cambridge, MA, USA MeSH: Congenital Abnormalities,Bardet-Biedl Syndrome,Orofaciodigital Syndromes https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000288 The study is aimed at identifying new genes involved in pediatric brain disorders from inbred families originating predominantly in the Middle East. Each patient analyzed to date has a specific and highly unique neurodevelopmental disorder that is likely to be recessive in nature. Many patients have one of the diseases along the "ciliopathy" spectrum of diseases, with evidence of kidney failure, retinal blindness and cerebellar ataxia.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000288
Keywords
Versions (2)
- 7/4/22 7/4/22 - Chiara Middel
- 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder
Eric Lander, Broad Institute, Cambridge, MA, USA
Uploaded on
July 4, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000288 Ciliopathies Exome Sequencing Initiative
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Family ID, subject ID, mother ID, father ID, sex, and twin ID of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Subject ID, sample ID, and sample use variable obtained from participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Subject ID, age, gender, and ethnicity of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Sample ID, body site where sample was obtained, analyte type, histological type of sample, and tumor status of samples of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Family ID, subject ID, mother ID, father ID, sex, and twin ID of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Subject ID, sample ID, and sample use variable obtained from participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Subject ID, age, gender, and ethnicity of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Sample ID, body site where sample was obtained, analyte type, histological type of sample, and tumor status of samples of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,2])
Elig.phs000288.v2.p2.1
Item
Inclusion criteria:
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs000288.v2.p2.2
Item
Proband from a family in which parents are 1st or 2nd degree cousins and there is two or more affected individuals in the family.
boolean
C0030551 (UMLS CUI [1,1])
C1517194 (UMLS CUI [1,2])
C1519210 (UMLS CUI [1,3])
C3844700 (UMLS CUI [2,1])
C0086282 (UMLS CUI [2,2])
C0522476 (UMLS CUI [2,3])
C1517194 (UMLS CUI [1,2])
C1519210 (UMLS CUI [1,3])
C3844700 (UMLS CUI [2,1])
C0086282 (UMLS CUI [2,2])
C0522476 (UMLS CUI [2,3])
Elig.phs000288.v2.p2.3
Item
The known genes involved in any similar disease have been excluded, either based upon direct sequencing of the gene, or by excluding the locus.
boolean
C2828389 (UMLS CUI [1,1])
C0017337 (UMLS CUI [1,2])
C3899368 (UMLS CUI [1,3])
C2828389 (UMLS CUI [2,1])
C0017337 (UMLS CUI [2,2])
C1708726 (UMLS CUI [2,3])
C0017337 (UMLS CUI [1,2])
C3899368 (UMLS CUI [1,3])
C2828389 (UMLS CUI [2,1])
C0017337 (UMLS CUI [2,2])
C1708726 (UMLS CUI [2,3])
Elig.phs000288.v2.p2.4
Item
There is adequate quantity of gDNA for analysis.
boolean
C0205411 (UMLS CUI [1,1])
C1265611 (UMLS CUI [1,2])
C3272453 (UMLS CUI [1,3])
C1265611 (UMLS CUI [1,2])
C3272453 (UMLS CUI [1,3])
Elig.phs000288.v2.p2.5
Item
Exclusion criteria:
boolean
C0680251 (UMLS CUI [1,1])
Elig.phs000288.v2.p2.6
Item
The individual DNA samples from the family must pass strict quality control steps to include: High quality DNA based upon OD 260/280 ratio, each sample must type properly for the assigned sex of the individual based upon X- and Y-chromosom markers, and each sample must show correct inheritance of polymorphic markers within the family.
boolean
C0205250 (UMLS CUI [1,1])
C0332306 (UMLS CUI [1,2])
C0012854 (UMLS CUI [1,3])
C0012854 (UMLS CUI [2,1])
C2349182 (UMLS CUI [2,2])
C0017393 (UMLS CUI [2,3])
C0079399 (UMLS CUI [2,4])
C0012854 (UMLS CUI [3,1])
C2349182 (UMLS CUI [3,2])
C0728826 (UMLS CUI [3,3])
C0796346 (UMLS CUI [3,4])
C0332306 (UMLS CUI [1,2])
C0012854 (UMLS CUI [1,3])
C0012854 (UMLS CUI [2,1])
C2349182 (UMLS CUI [2,2])
C0017393 (UMLS CUI [2,3])
C0079399 (UMLS CUI [2,4])
C0012854 (UMLS CUI [3,1])
C2349182 (UMLS CUI [3,2])
C0728826 (UMLS CUI [3,3])
C0796346 (UMLS CUI [3,4])
Elig.phs000288.v2.p2.7
Item
The family must not show a single linkage peak from genome-wide microarray data (otherwise we would use target-capture to identify the gene mutation).
boolean
C1298908 (UMLS CUI [1,1])
C0023745 (UMLS CUI [1,2])
C3702387 (UMLS CUI [1,3])
C0023745 (UMLS CUI [1,2])
C3702387 (UMLS CUI [1,3])