Genetic Counselling Resources

Resources for variant interpretation

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.

 

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