Kids First Datasets Available in June! -title-h1

Kids First Datasets Available in June!

Study Updates
April 30, 2018

The Kids First Data Resource Center is pleased to announce that whole genome sequence datasets from childhood cancer and structural birth defect communities will be available for access through the Kids First Data Resource Portal in June. Datasets have been aligned to GRCh38 with 4 additional datasets will be made available in September 2018.

You will find all phenotypic data is available for viewing with either NIH’s Database of Genotypes and Phenotypes (dbGaP) or CBTTC DAC access for the genomic data. If you already have been granted access through dbgap or CBTTC you will automatically have access to the Kids Portal.

To view abstracts for the Kids First X01 projects and estimated data release dates, visit: https://commonfund.nih.gov/kidsfirst/X01Projects.

PRINCIPAL INVESTIGATOR INSTITUTION STUDY TITLE ANTICIPATED # OF SAMPLES
Wendy Chung Columbia University Health Sciences Genomic Analysis of Congenital Diaphragmatic Hernia 600
Elizabeth Engle Children’s Hospital Corporation BCH Structural Birth Defects Collaboration: Syndromic cranial dysinnervation disorders 900
Mary Marazita University of Pittsburgh Genomic Studies of Orofacial Cleft Birth Defects 1242
Joshua Schiffman University of Utah Genetic Contribution to Ewing Sarcoma in 330 parent-Offspring Trios 1112
Christine Seidman President and Fellows of Harvard College Discovery of the Genetic Basis of Structural Heart and Other Birth Defects 900
Wendy Chung Columbia University Health Sciences Genomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies 942 + 15 (long read pilot)
Christine Seidman Harvard Medical School Discovery of De Novo and Inherited Mutations that Cause Prevalent Birth Defects/a> 1275
CBTTC Consortium CBTTC Data Announcement 959 clinical events with samples
PNOC Consortium PNOC Data Announcement 959 clinical events with samples
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