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 formed a research study before being deposited into the Portal. The idea behind these many studies/datasets coming together in one location is for other investigators to come in and create new studies and research based on the data already curated. 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 have been selected during 2015, 2016, 2017 and 2018 and will be available on the portal as the datasets are made available. Additional disease areas will be included through the donation of data and subsequent Kids First Investigator Awards.

About the Research-header-two

  • Adolescent Idiopathic Scoliosis
  • Cancer Susceptibility
  • Congenital Diaphragmatic Hernia
  • Craniofacial Microsomia
  • Disorders of Sex Development
  • Enchondromatoses
  • Ewing Sarcoma
  • Familial Leukemia
  • Hearing Loss
  • Infantile Hemangiomas
  • Neuroblastomas
  • Nonsyndromic Craniosynostosis
  • 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
Study Updates
October 02, 2018

Fourth Set of Childhood Cancer and Structural Birth Defect Patient Cohorts for Whole Genome Sequencing Selected

Fourth Set of Childhood Cancer and Structural Birth Defect Patient Cohorts for Whole Genome Sequencing Selected

Read More

Participants

The studies in the data resource portal comprise 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 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.

Families

The studies in the data resource portal are comprised 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 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. These samples, in-turn, are cultivated and sent to the sequencing centers to be genomically sequenced. Samples are from various tissue types including blood, saliva, tumor, 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 is data files of various types. The Portal has various different 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 own 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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