Studies

The data in the Kids First Data Resource Portal is a collection of datasets from various investigators who are performing disease-specific research. Each of these datasets originally were part of separate research studies before being deposited into the Portal. The idea behind these many studies/datasets being made available in one location is to enable other investigators to combine and create new studies and research based on the data already collected. Information on the studies/datasets that are in the Data Resource Portal can be found on the Study Updates page and the NIH X01 Study Page.

The following disease areas are represented in datasets that are currently available through the portal or will be available in the future. Additional disease areas are anticipated to be included through future Kids First opportunities.

About the Research-header-two

  • Adolescent Idiopathic Scoliosis
  • Bladder Exstrophy, Epispadias Complex
  • Cancer Susceptibility
  • Childhood Acute Myeloid Leukemia
  • Congenital Anomalies of the Kidney and Urinary Tract
  • Cornelia de Lange Syndrome
  • Congenital Diaphragmatic Hernia
  • Congenital Heart Defects and Acute Lymphoblastic Leukemia in Children with Down Syndrome
  • Craniofacial Microsomia
  • Disorders of Sex Development
  • Enchondromatoses
  • Esophageal Atresia and Tracheoesophageal Fistulas
  • Ewing Sarcoma
  • Familial Leukemia
  • Fetal Alcohol Spectrum Disorders
  • Hearing Loss
  • Infantile Hemangiomas
  • Neuroblastomas
  • Nonsyndromic Craniosynostosis
  • Microtia
  • Orofacial Clefts; Caucasian , Latin American, Asian & African populations
  • Osteosarcoma
  • Patients with both childhood cancer and birth defects
  • Structural Heart Defects
  • Syndromic Cranial Dysinnervation Disorders
  • Pediatric Brain Tumors
  • Pediatric Intracranial Germ Cell Tumors
  • Vascular Anomalies, Overgrowth, and Structural Birth Defects
Study Updates
November 02, 2018

“Adolescent Idiopathic Scoliosis (AIS)” Data Available for Access

The NIH Common Fund’s Gabriella Miller Kids First Pediatric Research Program (Kids First) is proud to announce that whole genome sequence (WGS) data for the AIS project...

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Participants

The studies in the Data Resource Portal consist of genomic sequencing and phenotype data from participants. Study participants are de-identified pediatric patients and their families (mother, father, brother, sister, etc) who consented to allowing their data to be contributed to the study. Researchers can search for complete trios in the Portal - which consist of the affected child’s data plus two of their family members. Being able to analyze data from multiple family members of an affected patient can help scientists better understand the diseases.

Families

The studies in the Data Resource Portal consist of genomic sequencing and phenotype data from participants. Study Participants are de-identified pediatric patients and their families (mother, father, brother, sister, etc.) who consented to allow their data to be contributed to the study. Researchers can search on complete trios in the Portal - which comprise of the affected child’s data plus two of their family members. Being able to analyze data from multiple members in a family of an affected patient can help scientists better understand the diseases.

Samples

Study participants consent to samples being taken during various clinical visits and surgical procedures. DNA from these samples are, in turn, extracted and sent to the sequencing centers to be genomically sequenced. Samples are of various types including tumor tissue, blood, saliva, and buccal mucosa (from cheek swabs). Users of the portal can filter their search results on the various sample types.

Files

The end products of genomic sequencing and processing are data files of various types. The Portal, therefore, has various file types for its samples. The common file types are BAMs, CRAMs, and gVCFs. The Data Resource Center receives source files from the sequencing center. Because the data comes from different sequencing centers with their workflows, we re-process the files to create a harmonized view of the data, which, in turn, creates more files; this is why users will see multiple files associated with a sample.

Size

Genomic data files are large! A single file in the portal is anywhere between 800 MB and 100 GB. As a reference point, the average size of a song in mp3 format is 3.5 MB. This large amount of data is why the Data Resource Center values cloud-based resources.

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