Database name Data type Use in present study
The Clinical Genome Resource (ClinGen) (Rehm et al., 2015)
Clinical validity, usefulness, and pathogenicity of genomic variants Development of comprehensive gene panels Variant analysis and interpretation
The Clinical Genomics Database (CGD) (Solomon et al., 2013)
Known gene-disease relationships organized by affected organ system(s) Clinical utility including availability of medical interventions Development of comprehensive gene panels
Online Mendelian Inheritance in Man® (OMIM)
Known human genes and associated phenotypes for established Mendelian disorders Development of comprehensive gene panels Variant analysis and interpretation Disease and familial risk information General resource for letter/report writing and genetic counseling
BabySeq (Ceyhan-Birsoy et al., 2017)
Catalog of genes with putative pediatric relevance Development of comprehensive gene panels
The Gene Curation Coalition (GenCC) (DiStefano et al., 2022, Preprint. DOI: https://doi.org/10.1101/2022.01.03.21268593)
Gene-disease validity Curated and harmonized Development of comprehensive gene panels
Pharmcogenomics Knowledge Base (PharmGKB) (Hewett et al., 2002)
Genomic, phenotypic, and clinical information related to pharmacogenetics (variability in drug response due to inherited genetic differences) Development of pharmacogenomic output/tables Variant analysis and interpretation
Clinical Pharmacogenetics Implementation Consortium (CPIC) (Relling et al., 2011)
Clinical guidelines for medication prescription and dosage based on pharmacogenomic findings Development of pharmacogenomic output/tables Variant analysis and interpretation
HapMap3 (Altshuler et al., 2010)
Population reference data set of common human DNA variants Genetic ancestry estimation and output
1000Genomes
Population reference data set of common human DNA variants Alternative dataset for genetic ancestry estimation
GeneReviews® (Adam et al., 1993-2022)
Summarized information on inherited conditions, including clinical descriptions, diagnosis, management, and genetic counseling Variant analysis and interpretation Disease and familial risk information General resource for letter/report writing and genetic counseling
ClinVar® variant database of the National Center for Biotechnology Information
Pathogenicity of variants and phenotypic relationships Submitter information and supporting data Variant analysis and interpretation
Genome Aggregation Database (gnomAD®)
GS and exome sequencing data as well as calculated allele frequencies from unrelated control individuals Variant analysis and interpretation