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Project Data

Genomic Answers for Kids

Advances in medicine happen more quickly when researchers share their findings and data. New studies build upon the published research of others, so it is essential that researchers publish their results in peer-reviewed scientific journals. Furthermore, generating new data is expensive and time consuming, so new findings are accelerated when researchers share data with each other. When many minds are looking at data, the chances for new insights increase. To support this, Genomic Answers for Kids is using new and innovative ways to share project data. Below you can find publications resulting from the project, ways that we share project data, and how researchers can request access to the data.

Graphic showing the benefits of sharing Genomic Answers for Kids project data with researchers

Publications


We publish our findings so they can be used to advance research and improve patient care.


Data Sharing


We share our data with the scientific community through several mechanisms designed to advance research in pediatric disease, while protecting participants’ confidentiality. Summary data on variants is publicly available, while individual level data is under controlled access and available only to other researchers studying pediatric genetic disease.

Children’s Mercy Variant Warehouse Database

Our variant warehouse of non-identifiable, summary data on all variants identified in the Children’s Mercy Genomic Medicine Center is publicly available in the Children's Mercy Variant Warehouse Database. The database can be searched and viewed with genomic annotations, population database cross-references such as ClinVar, gnomAD and dbSNP, ACMG curations and a local allele frequency.  Variant data are available for bulk download as an annotated VCF. The database is updated quarterly.

PhenoTips®

Individual level data including prioritized variants, patient symptoms and phenotype, putative diagnoses and diagnostic variants are available through a controlled access version of the PhenoTips® software. Individuals’ symptoms are entered using the Human Phenotype Ontology (HPO) with diagnoses stored using Online Mendelian Inheritance in Man (OMIM) phenotype identifiers. Individuals’ symptoms can be exported in a simple delimited text format for analysis and can be integrated in a number of open source tools and algorithms for automated diagnosis and candidate gene nomination. Prioritized, annotated variant lists for each individual are provided with display options to show genomic annotation and cross-referencing to external databases. The database can be searched by phenotype, diagnosis and candidate gene with case level details presented for each individual.

PhenoTips Patient Infographic graphic
PhenoTips Patient Infographic
PhenoTips Clinical Symptoms graphic
PhenoTips Clinical Symptoms

Database of Genotypes and Phenotypes (dbGaP)

Individual level genomic data including raw sequencing data, aligned reads, SNVs, small insertion/deletions and structural variant calls will be periodically deposited, along with phenotype data, into the NIH Database of Genotypes and Phenotypes (dbGaP). Access to the data is controlled by dbGaP and follows the conditions of the study’s informed consent. The data in dbGaP will also be available for analysis using the NHGRI Genomic Data Science Analysis Visualization and Informatics Lab-space (AnVIL).

Information on the Genomic Answers for Kids data available in dbGaP are available at the National Center for Biotechnology Information website.

Learn more and request access

Pediatric researchers may request access to individual level data from the Genomic Answers for Kids program.