The Clinical Genome Resource (ClinGen) (Rehm et al., 2015)
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Clinical validity, usefulness, and pathogenicity of genomic variants
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Development of comprehensive gene panels
Variant analysis and interpretation
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The Clinical Genomics Database (CGD) (Solomon et al., 2013)
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Known gene-disease relationships organized by affected organ system(s)
Clinical utility including availability of medical interventions
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Development of comprehensive gene panels
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Online Mendelian Inheritance in Man®
(OMIM)
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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
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BabySeq (Ceyhan-Birsoy et al., 2017)
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Catalog of genes with putative pediatric relevance
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Development of comprehensive gene panels
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The Gene Curation Coalition (GenCC) (DiStefano et al., 2022, Preprint.
DOI: https://doi.org/10.1101/2022.01.03.21268593)
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Gene-disease validity
Curated and harmonized
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Development of comprehensive gene panels
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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)
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Population reference data set of common human DNA variants
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Genetic ancestry estimation and output
|
1000Genomes†
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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
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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
|