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ID
45482
Description
Principal Investigator: F. Sessions Cole, MD, Washington University School of Medicine, St. Louis, MO, USA MeSH: Microcephaly,Isolated Noncompaction of the Ventricular Myocardium https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000553 To discover novel candidate genes associated with rare Mendelian phenotypes, we will conduct individual genomic and phenotypic characterization using genome-wide array, pedigree exome sequencing, candidate genotyping, and pertinent clinical testing to define phenotype. Pedigrees included in this submission will have a variety of clinical pathological phenotypes.
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Versions (2)
- 10/31/22 10/31/22 - Simon Heim
- 12/13/22 12/13/22 - Kristina Keller
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F. Sessions Cole, MD, Washington University School of Medicine, St. Louis, MO, USA
Uploaded on
December 13, 2022
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Creative Commons BY 4.0
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dbGaP phs000553 Familial Exome Sequencing in Rare Pediatric Phenotypes
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, subject ID aliases, affection status, and pooled subject IDs.
- The pedigree data table contains pedigree and gender information of study participants from a single family.
- The subject sample data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes a mapping of sample IDs to other sample ID aliases, pooled sample IDs, and sample use.
- The subject phenotype data table includes subject age, height, birthplace, sex, race, education, and weight.
- The sample attributes data table includes body site where sample was extracted, sample analyte type, histological type, and tumor status.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, subject ID aliases, affection status, and pooled subject IDs.
- The pedigree data table contains pedigree and gender information of study participants from a single family.
- The subject sample data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes a mapping of sample IDs to other sample ID aliases, pooled sample IDs, and sample use.
- The subject phenotype data table includes subject age, height, birthplace, sex, race, education, and weight.
- The sample attributes data table includes body site where sample was extracted, sample analyte type, histological type, and tumor status.
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Probands in these studies will be children who present to Washington University School of Medicine with unique and previously uncharacterized pathological findings with likely Mendelian inheritance. Inclusion criteria consist of parental written informed consent and the ability to provide genomic DNA from the proband(s) and parents, and potentially a healthy sibling who has also provided written informed consent. Exclusion criteria include a lack of written informed consent or the inability to provide genomic DNA. Written informed consent would also permit relevant ancillary clinical studies (e.g. MRI scan, cardiac echocardiography) to be performed either during the proband's clinical course or as part of the characterization of other pedigree members. However, refusal to undergo ancillary testing would not exclude the pedigree from genomic characterization.
Item
Probands in these studies will be children who present to Washington University School of Medicine with unique and previously uncharacterized pathological findings with likely Mendelian inheritance. Inclusion criteria consist of parental written informed consent and the ability to provide genomic DNA from the proband(s) and parents, and potentially a healthy sibling who has also provided written informed consent. Exclusion criteria include a lack of written informed consent or the inability to provide genomic DNA. Written informed consent would also permit relevant ancillary clinical studies (e.g. MRI scan, cardiac echocardiography) to be performed either during the proband's clinical course or as part of the characterization of other pedigree members. However, refusal to undergo ancillary testing would not exclude the pedigree from genomic characterization.
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