Total 5 skills · from GitHub & curated sets, updated daily
a5c-ai/babysitter/library/specializations/domains/science/bioinformatics/skills/acmg-variant-classifier
ACMG/AMP variant classification skill for systematic pathogenicity assessment
a5c-ai/babysitter/library/specializations/domains/science/bioinformatics/skills/deepvariant-caller
DeepVariant deep learning variant calling skill for high-accuracy SNV and indel detection
a5c-ai/babysitter/library/specializations/domains/science/bioinformatics/skills/gatk-variant-caller
GATK best practices skill for germline and somatic variant calling with joint genotyping
a5c-ai/babysitter/library/specializations/domains/science/bioinformatics/skills/structural-variant-detector
Structural variant detection skill for identifying CNVs, inversions, translocations, and complex rearrangements
a5c-ai/babysitter/library/specializations/domains/science/bioinformatics/skills/vep-variant-annotator
Variant Effect Predictor skill for comprehensive variant annotation with clinical database integration