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pathogenic-variants

Here are 6 public repositories matching this topic...

ding-lab / CharGer

Characterization of Germline variants

bioinformatics annotations clinical variants characterization pathogenicity clinvar vep diseases pathogenic-variants germline-variants exac acmg gnomad

Updated Mar 15, 2022
Python

sigven / cpsr

Cancer Predisposition Sequencing Reporter (CPSR)

docker cancer workflow-engine vcf cancer-genomics pathogenicity cancer-research report-generator pathogenic-variants germline-variants acmg inherited reporting-tool predisposition cancer-predisposition pathogenic-loci genomics-england-panelapp cancer-predisposition-report

Updated Mar 10, 2022
R

sigven / cacao

Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer

quality-control cancer coverage-report sequencing next-generation-sequencing cancer-genomics alignment quality-assurance command-line-tool bam clinical-decision-support pathogenic-variants sequencing-coverage pathogenic-loci

Updated Dec 8, 2020
R

quinlan-lab / pathoscore

pathoscore evaluates variant pathogenicity tools and scores.

variants score vcfanno pathogenic-variants

Updated Mar 25, 2022
Python

cmbi / metadome

MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.

genetics proteins gene-annotation genes pathogenicity variant-annotations protein-domains pathogenic-variants protein-annotation genetic-tolerance domain-homology variant-interpretation

Updated Mar 1, 2022
Python

MODY_GENES

umr1283 / MODY_GENES

Code associated with the article entitled "Pathogenic variants in actionable MODY genes associate with type 2 diabetes"

bioinformatics biostatistics pathogenic-variants mody-genes

Updated Apr 20, 2021
Perl

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