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Found 86 Skills
Patterns for building, maintaining, and scaling bioinformatics workflows. Covers Nextflow, Snakemake, WDL/Cromwell, container orchestration, and best practices for reproducible computational biology. Use when ", " mentioned.
Guides users through bioinformatics analysis on AWS HealthOmics. Covers analysis type selection (alignment, variant calling, QC, interpretation), workflow generation in Nextflow or WDL, container sourcing from public registries, infrastructure setup (S3, ECR, IAM), workflow registration, parameter preparation, execution, and monitoring. Use when a user wants to run any bioinformatics pipeline on HealthOmics, set up genomics infrastructure on AWS, create a new analysis workflow, or run existing tools like BWA, GATK, DeepVariant, FastQC, or similar on HealthOmics. Triggers include "HealthOmics", "bioinformatics", "genomics pipeline", "Nextflow", "WDL", "BWA", "GATK", "DeepVariant", "FastQC", "variant calling", "alignment", "RNA-seq", "whole genome sequencing", "ECR pull-through", "workflow registration", "run cache"
Publication-quality bioinformatics figures - phylogenetic trees, genome browsers, iTOL datasets, and data presentation
Core bioinformatics concepts including SAM/BAM format, AGP genome assembly format, sequencing technologies (Hi-C, HiFi, Illumina), quality metrics, and common data processing patterns. Essential for debugging alignment, filtering, pairing issues, and AGP coordinate validation.
CLI/Python toolkit for rapid bioinformatics queries. Preferred for quick BLAST searches. Access to 20+ databases: gene info (Ensembl/UniProt), AlphaFold, ARCHS4, Enrichr, OpenTargets, COSMIC, genome downloads. For advanced BLAST/batch processing, use biopython. For multi-database integration, use bioservices.
Comprehensive molecular biology toolkit. Use for sequence manipulation, file parsing (FASTA/GenBank/PDB), phylogenetics, and programmatic NCBI/PubMed access (Bio.Entrez). Best for batch processing, custom bioinformatics pipelines, BLAST automation. For quick lookups use gget; for multi-service integration use bioservices.
Latch platform for bioinformatics workflows. Build pipelines with Latch SDK, @workflow/@task decorators, deploy serverless workflows, LatchFile/LatchDir, Nextflow/Snakemake integration.
Unified Python interface to 40+ bioinformatics services. Use when querying multiple databases (UniProt, KEGG, ChEMBL, Reactome) in a single workflow with consistent API. Best for cross-database analysis, ID mapping across services. For quick single-database lookups use gget; for sequence/file manipulation use biopython.
Production-ready VCF processing, variant annotation, mutation analysis, and structural variant (SV/CNV) interpretation for bioinformatics questions. Parses VCF files (streaming, large files), classifies mutation types (missense, nonsense, synonymous, frameshift, splice, intronic, intergenic) and structural variants (deletions, duplications, inversions, translocations), applies VAF/depth/quality/consequence filters, annotates with ClinVar/dbSNP/gnomAD/CADD via ToolUniverse, interprets SV/CNV clinical significance using ClinGen dosage sensitivity scores, computes variant statistics, and generates reports. Solves questions like "What fraction of variants with VAF < 0.3 are missense?", "How many non-reference variants remain after filtering intronic/intergenic?", "What is the pathogenicity of this deletion affecting BRCA1?", or "Which dosage-sensitive genes overlap this CNV?". Use when processing VCF files, annotating variants, filtering by VAF/depth/consequence, classifying mutations, interpreting structural variants, assessing CNV pathogenicity, comparing cohorts, or answering variant analysis questions.
Fast CLI/Python queries to 20+ bioinformatics databases. Use for quick lookups: gene info, BLAST searches, AlphaFold structures, enrichment analysis. Best for interactive exploration, simple queries. For batch processing or advanced BLAST use biopython; for multi-database Python workflows use bioservices.
Use when implementing production-quality bioinformatics software with proper error handling, logging, testing, and documentation, following software engineering best practices.
Use when writing or modifying Python code that imports `genoray` to read genotypes/dosages from VCF, PGEN, or SparseVar (`.svar`) files. Covers the public API surface, mode constants, range queries, chunking, filtering, and the SparseVar workflow. Skip for unrelated bioinformatics work.