ID
45774
Descrição
Principal Investigator: Wendy Chung, MD, PhD, Columbia University Medical Center, New York, NY, USA MeSH: Hernias, Diaphragmatic, Congenital https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001110 The Gabriella Miller Kids First Pediatric Research Program (Gabriella Miller Kids First Pediatric Research Program) (Kids First) is a trans-NIH effort initiated in response to the 2014 Gabriella Miller Kids First Research Act and supported by the NIH Common Fund. This program focuses on gene discovery in pediatric cancers and structural birth defects and the development of the Gabriella Miller Kids First Pediatric Data Resource (Kids First Data Resource). Both, childhood cancers and structural birth defects are critical and costly conditions associated with substantial morbidity and mortality. Elucidating the underlying genetic etiology of these diseases has the potential to profoundly improve preventative measures, diagnostics, and therapeutic interventions. WGS and phenotypic data from this study are accessible through dbGaP and kidsfirstdrc.org, where other Kids First datasets can also be accessed. In collaboration with the University of Utah, DNA from four families were selected for high-depth WGS (60X) including diaphragm and skin tissue to identify mosaicism. In collaboration with the Broad Institute, DNA from four families underwent linked long read sequencing using 10X Genomics technology. Probands with congenital diaphragmatic hernia/defects and both biological parents enrolled as part of the DHREAMS study.
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- 19/06/2023 19/06/2023 - Chiara Middel
Titular dos direitos
Wendy Chung, MD, PhD, Columbia University Medical Center, New York, NY, USA
Transferido a
19 de junho de 2023
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs001110 Kids First: Pediatric Research Project on the Genomic Analysis of Congenital Diaphragmatic Hernia
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This subject consent file includes subject IDs and consent group information.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and subjects's sex.
- This subject sample mapping file contains a 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.
- This subject phenotype data table includes subject's sex, race, ethnicity, isolated birth defect, congenital heart defect, central nervous system defect, gastrointestinal defect, and other congenital malformations (n=3 variables), discharge status, and affection status for congenital diaphragmatic hernia/defects.
- This sample attributes data table includes body site where sample was collected, analyte type, and tumor status.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This subject consent file includes subject IDs and consent group information.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, and subjects's sex.
- This subject sample mapping file contains a 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.
- This subject phenotype data table includes subject's sex, race, ethnicity, isolated birth defect, congenital heart defect, central nervous system defect, gastrointestinal defect, and other congenital malformations (n=3 variables), discharge status, and affection status for congenital diaphragmatic hernia/defects.
- This sample attributes data table includes body site where sample was collected, analyte type, and tumor status.
C0680251 (UMLS CUI [1,2])
C0000768 (UMLS CUI [1,2])
C1706086 (UMLS CUI [1,3])
C0205460 (UMLS CUI [1,4])
C0030551 (UMLS CUI [1,5])
C4041024 (UMLS CUI [1,6])