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- Study Description
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Important Links and Information
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Request access via Authorized Access
- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
The 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).
All of the WGS and phenotypic data from this study are accessible through dbGaP and kidsfirstdrc.org, where other Kids First datasets can also be accessed.Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a rare and complex aerodigestive congenital anomaly with an estimated incidence of 1 in 2500 to 1 in 4000 live births. We propose to elucidate the underlying genomic architecture of EA/TEF by performing whole genome sequencing to characterize new clinical syndromes associated with EA/TEF to provide more accurate clinical prognostic information.- Study Weblinks:
- Study Design:
- Family/Twin/Trios
- Study Type:
- Cohort
- Parent-Offspring Trios
- Total number of consented subjects: 410
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data (Public ftp)
- Study Inclusion/Exclusion Criteria
Inclusion criteria for probands: Esophageal atresia and/or tracheoesophageal fistula with DNA available on their parents without esophageal atresia and/or tracheoesophageal fistula
- Study History
The study goals of this Kids First project are to identify rare de novo and inherited sequence variants, copy number variants, and structural variants in patients with esophageal atresia and/or tracheoesophageal fistula.
- Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Tracheoesophageal Fistula
- Esophageal Atresia
- Links to Related Genes
- Links to Related Resources
- Authorized Data Access Requests
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See research articles citing use of the data from this study
- Study Attribution
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Principal Investigator
- Wendy Chung, MD, PhD. Columbia University Health Sciences.
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Funding Source
- X01 HL145692-01. National Institutes of Health, Bethesda, MD, USA.
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Principal Investigator