| bio-alignment-amplicon-clipping |
bioskills |
Trim PCR primers from aligned reads in amplicon-panel BAMs using samtools ampliconclip. Use when processing SARS-CoV-2 ARTIC, hereditary cancer pan… |
| bio-alignment-filtering |
bioskills |
Filter alignments by flags, mapping quality, and regions using samtools view and pysam. Use when extracting specific reads, removing low-quality al… |
| bio-alignment-indexing |
bioskills |
Create and use BAI/CSI indices for BAM/CRAM files using samtools and pysam. Use when enabling random access to alignment files or fetching specific… |
| bio-alignment-io |
bioskills |
Read, write, and convert multiple sequence alignment files using Biopython Bio.AlignIO. Supports Clustal, PHYLIP, Stockholm, FASTA, Nexus, and othe… |
| bio-alignment-msa-parsing |
bioskills |
Parse and analyze multiple sequence alignments using Biopython. Extract sequences, identify conserved regions, analyze gaps, work with annotations,… |
| bio-alignment-msa-statistics |
bioskills |
Calculate alignment statistics including sequence identity, conservation scores, substitution matrices, and similarity metrics. Use when comparing… |
| bio-alignment-multiple |
bioskills |
Perform multiple sequence alignment using MAFFT, MUSCLE5, ClustalOmega, or T-Coffee. Guides tool and algorithm selection based on dataset size, seq… |
| bio-alignment-pairwise |
bioskills |
Perform pairwise sequence alignment using Biopython Bio.Align.PairwiseAligner. Use when comparing two sequences, finding optimal alignments, scorin… |
| bio-alignment-sorting |
bioskills |
Sort alignment files by coordinate or read name using samtools and pysam. Use when preparing BAM files for indexing, variant calling, or paired-end… |
| bio-alignment-structural |
bioskills |
Align protein structures using Foldseek 3Di, TM-align, US-align, DALI, or Foldmason for structural MSA. Predict, score, and superpose backbone coor… |
| bio-alignment-trimming |
bioskills |
Trim multiple sequence alignments using ClipKIT, trimAl, BMGE, Divvier, or HMMcleaner with mode selection guidance per downstream goal. Use when re… |
| bio-alignment-validation |
bioskills |
Validate alignment quality with insert size distribution, proper pairing rates, GC bias, strand balance, and other post-alignment metrics. Use when… |
| bio-atac-seq-allele-specific-accessibility |
bioskills |
Detect allele-specific chromatin accessibility from ATAC-seq using WASP, GATK ASEReadCounter, or RASQUAL. Use when mapping cis-regulatory genetic v… |
| bio-atac-seq-atac-peak-calling |
bioskills |
Call accessible chromatin regions from ATAC-seq BAM files using MACS3, MACS2, Genrich, or HMMRATAC. Use when identifying open chromatin from aligne… |
| bio-atac-seq-consensus-peakset |
bioskills |
Build a differential-ready consensus peakset from per-replicate ATAC-seq peaks using iterative overlap removal, fixed-width re-centering, and major… |
| bio-bam-statistics |
bioskills |
Generate alignment statistics using samtools flagstat, stats, depth, coverage, and mosdepth. Use when assessing alignment quality, calculating cove… |
| bio-basecalling |
bioskills |
Convert raw Nanopore signal data (FAST5/POD5) to nucleotide sequences using Dorado basecaller. Covers model selection, GPU acceleration, modified b… |
| bio-bedgraph-handling |
bioskills |
Create, manipulate, and convert bedGraph files for genome browser visualization. Covers bedGraph format, conversion to/from bigWig, normalization,… |
| bio-biomart-queries |
bioskills |
Bulk-query Ensembl BioMart (and other BioMart instances) for cross-database ID mapping, gene/transcript/exon coordinates, and ortholog tables. Use… |
| bio-causal-genomics-colocalization-analysis |
bioskills |
Test whether two or more traits share a causal variant at a locus using Bayesian colocalization (coloc.abf, coloc.susie, HyPrColoc, moloc, eCAVIAR,… |
| bio-causal-genomics-effector-gene-prioritization |
bioskills |
Maps GWAS-implicated loci to candidate effector (causal) genes by integrating variant-to-gene (V2G) features via Open Targets L2G (Mountjoy 2021),… |
| bio-causal-genomics-fine-mapping |
bioskills |
Resolves GWAS associations to candidate causal variants and credible sets via SuSiE, susie_rss, FINEMAP, CAVIAR, DAP-G, PAINTOR, PolyFun, SuSiEx, M… |
| bio-causal-genomics-genetic-correlation |
bioskills |
Estimate bivariate genetic correlation (rg) between traits from GWAS summary statistics or individual-level genotypes using cross-trait LDSC, HDL,… |
| bio-causal-genomics-genomic-sem |
bioskills |
Fits structural equation models to GWAS summary statistics using GenomicSEM (Grotzinger 2019), including common-factor models, confirmatory factor… |
| bio-causal-genomics-mediation-analysis |
bioskills |
Decompose total effects into direct and indirect paths through mediators using mediation, CMAverse 4-way, HIMA/HIMA2 high-dimensional, BAMA, two-st… |
| bio-causal-genomics-mendelian-randomization |
bioskills |
Estimate causal effects of an exposure on an outcome from GWAS summary statistics using genetic instruments. Implements IVW (fixed/random), MR-Egge… |
| bio-causal-genomics-pleiotropy-detection |
bioskills |
Detect and adjust for horizontal pleiotropy in two-sample Mendelian randomization by distinguishing uncorrelated (UHP) from correlated (CHP) pleiot… |
| bio-causal-genomics-proteome-mr-drug-target |
bioskills |
Runs cis-pQTL Mendelian randomization for drug-target validation using UKB-PPP (Olink), deCODE (SomaScan), Fenland, INTERVAL, ARIC, and FinnGen-PPP… |
| bio-causal-genomics-transcriptome-wide-association |
bioskills |
Performs gene-level association from GWAS summary statistics via genetically predicted tissue expression using FUSION, PrediXcan, S-PrediXcan, S-Mu… |
| bio-cfdna-preprocessing |
bioskills |
Preprocesses cell-free DNA sequencing data including adapter trimming, alignment optimized for short fragments, and UMI-aware duplicate removal usi… |
| bio-chipseq-allele-specific-binding |
bioskills |
Detects allele-specific transcription factor or histone modification binding from heterozygous-variant ChIP-seq using WASP (reference-bias filter;… |
| bio-chipseq-chip-deep-learning |
bioskills |
Trains and applies base-resolution deep learning models on ChIP-seq / ChIP-nexus / CUT&RUN data. Uses BPNet (Avsec 2021 Nat Genet 53:354; soft moti… |
| bio-chipseq-peak-calling |
bioskills |
Calls ChIP-seq peaks with MACS3, MACS2, HOMER, or SPP across narrow (TF) and broad (histone) modes. Handles input control matching, fragment-size m… |
| bio-chipseq-visualization |
bioskills |
Visualizes ChIP-seq data using deepTools (computeMatrix, plotHeatmap, plotProfile, bamCoverage, bamCompare), pyGenomeTracks (modern INI-driven trac… |
| bio-clinical-biostatistics-adaptive-designs |
bioskills |
Designs adaptive clinical trials including group-sequential (O’Brien-Fleming, Pocock, Lan-DeMets spending), sample-size re-estimation (blinded Frie… |
| bio-clinical-biostatistics-categorical-tests |
bioskills |
Tests associations between categorical variables in clinical data using chi-square, Fisher’s exact, Boschloo, Cochran-Mantel-Haenszel, and modern M… |
| bio-clinical-biostatistics-power-sample-size |
bioskills |
Computes sample size and power for clinical trials including continuous, binary, and time-to-event endpoints; superiority, non-inferiority, and equ… |
| bio-clinical-databases-acmg-classification |
bioskills |
Applies ACMG/AMP 2015 framework with ClinGen SVI specifications, Tavtigian 2018/2020 Bayesian point system, Abou Tayoun 2018 PVS1 decision tree, Pe… |
| bio-clinical-databases-clinvar-lookup |
bioskills |
Queries ClinVar for variant pathogenicity classifications, ClinGen VCEP curations, and somatic-vs-germline interpretations via REST API, weekly VCF… |
| bio-clinical-databases-dbsnp-queries |
bioskills |
Resolves rsIDs, navigates RsMergeArch/SNPHistory merge chains, and converts between rsID, SPDI, HGVS, and VCF representations using the dbSNP Build… |
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