This page lists resources and recommendations on genetic counseling and the interpretation of specialized genetic and biochemical tests.
Miller et al., 2023 - ACMG recommendations on secondary findings - ACMG SF v3.2.
ACMG, 2022 - ACMG recommendations on detection of structural variants by next-generation sequencing.
Deans et al., 2022 - ESHG Guidelines on Genomic Test Reports
Gaudio, 2020 - ACMG recommendations for diagnostic testing for uniparental disomy
SBGM, 2020 - SBGM statement on genetic tests
Bush, 2018 - ACMG recommendations for pre-test counseling for teens and older children
Varsome - Facilitates classification by ACMG criteria. It accepts .vcf and .fastq files only in the paid version.
Franklin - Facilitates classification by ACMG criteria. It accepts both variants and .vcf files.
Genetic Variant Interpretation Tool - ACMG criteria checklist
Uniprot - Allows evaluation of the domain in which the variant occurs.
ProteinPaint - Facilitates visualization of hotspots in the gene.
Mutalyzer - Allows you to check the variant description. Similar to VariantValidator.
UCSC Genome Browser - Useful tool for localizing the variant in the genome. Includes a wide range of customizable annotations.
VariantValidator - Enables validation, mapping and formatting of sequence variant descriptions. Similar to Mutalyzer.