acmg-guidelines

There are 0 repository under acmg-guidelines topic.

damianosmel / GenOtoScope
Automated ACMG/AMP classification for human variants associated with congenital hearing loss
acmg-guidelines bioinformatics hearing-loss human-genetics pathogenicity-classification research-only variant
Language:Python 8
Hansi-Thewarapperuma / Inherited_Risk_Detector
Identification of cancer-causing variants
bioinformatics annotations cancer-detection cancer-genomics cancer-research clinical clinvar dbnsfp dbsnp gnomad grch37 variants acmg-guidelines allele-frequencies clinical-significance conservation-scores diseases functional-prediction hereditary-cancer-syndrome pathogenic-variants
Language:Python 3
pstawinski / pygenebe
PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing
acmg-guidelines bioinformatics genetics gnomad hgvs python variant-annotations vep-annotation clinvar
Language:Python 3
ronaldosfjunior / VarSleuth
An R package for interpreting genetic variants according to the ACMG guidelines.
acmg acmg-guidelines clinvar genetic-diagnosis genetic-diseases genetic-variants gnomad hgmd r-package rare-variant-analysis vcf vcf-files
Language:R 0