variant-interpretation-acmg
Classifies genetic variants according to ACMG (American College of Medical Genetics) guidelines.
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Classifies genetic variants according to ACMG (American College of Medical Genetics) guidelines.
ISMS-P 인증 준비 지원. 항목 조회, 체크리스트 생성, 이행 계획 수립.
R&D management expertise for R&D portfolio management, technology roadmapping, research methodology, patent strategy, lab management, academic partnerships, and regulatory pathways. Use when managing research p...
Perform gene set enrichment analysis using AI research providers. Analyzes lists of genes to identify biological themes, pathways, and functional associations.
Multiagent AI system for scientific research assistance that automates research workflows from data analysis to publication. This skill should be used when generating research ideas from datasets, developing re...
This skill should be used when working with genomic interval data (BED files) for machine learning tasks. Use for training region embeddings (Region2Vec, BEDspace), single-cell ATAC-seq analysis (scEmbed), buil...
High-performance toolkit for genomic interval analysis in Rust with Python bindings. Use when working with genomic regions, BED files, coverage tracks, overlap detection, tokenization for ML models, or fragment...
Python interface to OpenMS for mass spectrometry data analysis. Use for LC-MS/MS proteomics and metabolomics workflows including file handling (mzML, mzXML, mzTab, FASTA, pepXML, protXML, mzIdentML), signal pro...
Automated hypothesis generation and testing using large language models. Use this skill when generating scientific hypotheses from datasets, combining literature insights with empirical data, testing hypotheses...
Multi-specialist collaborative analysis to understand how features, functions, or components work
Autonomous biomedical AI agent framework for executing complex research tasks across genomics, drug discovery, molecular biology, and clinical analysis. Use this skill when conducting multi-step biomedical rese...
Skill for validating and repairing evidence references in the dismech knowledge base. Use this skill when working with evidence items in disorder YAML files, validating that snippet text matches PubMed abstract...
Skill for analyzing and improving compliance in the dismech knowledge base. Use this skill when checking disorder file completeness, identifying missing fields (ontology terms, evidence, descriptions), understa...
Skill for adding and validating ontology term references in the dismech knowledge base. This skill should be used when working with disorder YAML files that need ontology term annotations (HPO for phenotypes, C...
Force-fit patterns from other domains to spark novel concepts.
Screen job candidates using AI-powered evaluation. Use when asked to "screen candidates", "review applicants", "evaluate candidates", or when reviewing resumes and applications.
Reviews implemented ADRs by comparing them against actual implementation and updating feedback sections. Use this when the user wants to review an ADR implementation, validate architectural decisions, or update...
Specialized skill for analyzing lunar lander interface specifications and payload capacity within the LORS framework.
Specialized skill for analyzing lunar rover technical specifications and mobility systems within the LORS framework.
Diagnose research quality and guide systematic query expansion. Use when starting research on any topic, when stuck in research, or when unsure if research is complete.
RxMemberSim generates realistic synthetic pharmacy data for testing PBM systems, claims adjudication, and drug utilization review. Use when user requests: (1) pharmacy claims or prescription data, (2) DUR alert...
Generate realistic clinical trial synthetic data including study definitions, sites, subjects, visits, adverse events, efficacy assessments, and disposition. Use when user requests: clinical trial data, CDISC/S...
Create, select, and transform features to improve machine learning model performance. Handles feature scaling, encoding, and importance analysis. Use when asked to "engineer features" or "select features".
Validate WCAG compliance and accessibility standards (ARIA, keyboard navigation). Use when auditing WCAG compliance or screen reader compatibility. Trigger with phrases like "scan accessibility", "check WCAG co...
The default order uses GitHub repository stars from our indexed data. Stars belong to the source repository and may be shared by multiple skills. They indicate repository interest, not skill installs or an independent quality score.