pathogenic-variants

There are 1 repository under pathogenic-variants topic.

ding-lab / CharGer
Characterization of Germline variants
diseases germline-variants pathogenicity variants characterization annotations clinvar vep exac acmg clinical pathogenic-variants bioinformatics gnomad
Language:Python 93
sigven / cpsr
Cancer Predisposition Sequencing Reporter (CPSR)
acmg cancer cancer-genomics cancer-predisposition cancer-predisposition-report cancer-research docker genomics-england-panelapp germline-variants inherited pathogenic-loci pathogenic-variants pathogenicity predisposition report-generator reporting-tool vcf workflow-engine
Language:R 53
quinlan-lab / pathoscore
pathoscore evaluates variant pathogenicity tools and scores.
score pathogenic-variants variants vcfanno
Language:Python 21
sigven / cacao
Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer
cancer-genomics sequencing coverage-report sequencing-coverage clinical-decision-support next-generation-sequencing command-line-tool bam alignment cancer pathogenic-loci pathogenic-variants quality-assurance quality-control
Language:R 21
vicsanga / Postre
POSTRE: Prediction Of STRuctural variant Effects
copy-number-variation medical-genetics non-coding-variants structural-variants cnvs pathogenic-variants pathogenicity
Language:R 18
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.
genes genetics proteins protein-domains genetic-tolerance domain-homology pathogenicity pathogenic-variants variant-annotations variant-interpretation gene-annotation protein-annotation
Language:Python 6
DITTO-UI
uab-cgds-worthey / DITTO-UI
Easy to use web interface for biologists to look for genetic variants and understand their deleteriousness using DITTO scores.
streamlit-webapp pathogenic-variants rare-disease bioinformatics clinvar ditto genomics precision-medicine
Language:Python 3
Hansi-Thewarapperuma / Inherited_Risk_Detector
Identification of cancer-causing variants
acmg-guidelines allele-frequencies annotations bioinformatics cancer-detection cancer-genomics cancer-research clinical clinical-significance clinvar conservation-scores dbnsfp dbsnp diseases functional-prediction gnomad grch37 hereditary-cancer-syndrome pathogenic-variants variants
Language:Python 2
russelllab / presr
PRESR is a predictor of pathogenicity of MUNC18-1 variants
epilepsy logistic-regression machine-learning pathogenic-variants protein sequence structure
Language:R 1
MODY_GENES
umr1283 / MODY_GENES
Code associated with the article entitled "Pathogenic variants in actionable MODY genes associate with type 2 diabetes"
bioinformatics biostatistics mody-genes pathogenic-variants
Language:Perl