203 件 ・ 関連度順
概要と使いどころ
Detect allele-specific chromatin accessibility from ATAC-seq using WASP, GATK ASEReadCounter, or RASQUAL. Use when mapping cis-regulatory genetic variants from heterozygous SNPs, separating cis from trans regulation, building chromatin QTL (caQTL) maps, validating GWAS variant function with allelic imbalance, or detecting reference allele mapping bias before downstream analysis.
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Fits structural equation models to GWAS summary statistics using GenomicSEM (Grotzinger 2019), including common-factor models, confirmatory factor models, ESEM, common-factor GWAS with Q_SNP heterogeneity, multivariate Wald tests, and stratified GenomicSEM partitioned heritability. Reconciles results against MTAG multi-trait analysis. Handles sample overlap via the LDSC sampling-covariance matrix, identifies and resolves Heywood cases, and verifies model fit with CFI / RMSEA. Use when modeling latent genetic architecture across correlated traits, running multivariate GWAS on a shared factor, distinguishing factor-mediated from trait-specific SNP effects, or comparing GenomicSEM common-factor results against MTAG when both depend on accurate sampling covariance.
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Estimate causal effects of an exposure on an outcome from GWAS summary statistics using genetic instruments. Implements IVW (fixed/random), MR-Egger, weighted median/mode, MR-RAPS, CAUSE, GSMR-HEIDI, MR-PRESSO, MVMR, MR-Clust, LCV, and LHC-MR via TwoSampleMR, MendelianRandomization, MR-PRESSO, cause, and lhcMR. Use when testing causal direction between traits, evaluating drug-target effects via cis-pQTL/cis-eQTL, performing multivariable mediation MR, distinguishing causation from correlated horizontal pleiotropy, or producing STROBE-MR-compliant sensitivity batteries.
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Model, simulate, and optimize Serializer/Deserializer (SerDes) systems — serial and parallel links — using MATLAB SerDes Toolbox. Design NRZ and PAM-N links (PAM3 through PAM16) — explore equalization architectures (FFE, CTLE, DFE), sweep or optimize parameters with genetic algorithms, and characterize channels from loss models, S-parameter files, or crosstalk scenarios. Process captured waveforms through equalization chains, build eye diagrams, and decompose jitter. Deliver IBIS-AMI models for Tx, Rx, Redriver, or Retimer by exporting to Simulink and compiling .ami/.ibs/.dll/.so files. Covers the full arc from initial design exploration and parameter optimization to compliance testing and compiled model validation, including custom datapath blocks for nonstandard equalization.
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Phylogenetic tree visualization, manipulation, and analysis
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DNA sequence profiling and genetic variant characterization
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Offers functions for plotting split (or implicit) networks (unrooted, undirected) and explicit networks (rooted, directed) with reticulations extending. 'ggtree' and using functions from 'ape' and 'phangorn'. It extends the 'ggtree' package [@Yu2017] to allow the visualization of phylogenetic networks using the 'ggplot2' syntax. It offers an alternative to the plot functions already available in 'ape' Paradis and Schliep (2019) <doi:10.1093/bioinformatics/bty633> and 'phangorn' Schliep (2011) <d
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'ggtree' extends the 'ggplot2' plotting system which implemented the grammar of graphics. 'ggtree' is designed for visualization and annotation of phylogenetic trees and other tree-like structures with their annotation data.
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Seamlessly interfaces the Basic Local Alignment Search Tool (BLAST) to search genetic sequence data bases. This work was partially supported by grant no. R21HG005912 from the National Human Genome Research Institute.
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This tool uses the label-tree function from HyPhy to annotate a phylogenetic tree. It allows users to select a subset of leaves using either a regular expression or a list of sequence names, and then apply a specified label to these selecte
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MHC (major histocompatibility complex) molecules are cell surface complexes that present antigens to T cells. The repertoire of antigens presented in a given genetic background largely depends on the sequence of the encoded MHC molecules, and thus, in humans, on the highly variable HLA (human leukocyte antigen) genes of the hyperpolymorphic HLA locus. More than 28,000 different HLA alleles have been reported, with significant differences in allele frequencies between human populations worldwide
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Primary Python toolkit for molecular biology. Preferred for Python-based PubMed/NCBI queries (Bio.Entrez), sequence manipulation, file parsing (FASTA, GenBank, FASTQ, PDB), advanced BLAST workflows, structures, phylogenetics. For quick BLAST, use gget. For direct REST API, use pubmed-database.
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GWAS and population genetics tool. Processes PLINK (.bed/.bim/.fam), VCF, and BGEN; runs QC (MAF, HWE, missingness), IBD estimation, PCA, and linear/logistic regression GWAS. Outputs Manhattan-ready summary stats. Use regenie or SAIGE for biobanks (>100k samples) needing mixed models.
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CLI for VCF/BCF: filter, merge, annotate, query, normalize, compute stats. Core post-variant-calling: quality filtering, multi-sample merging, rsID annotation, genotype extraction. Samtools companion in HTSlib. Use GATK for complex indel realignment during calling; use VCFtools for population genetics stats.
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Query ARCHS4 REST API for uniformly processed RNA-seq expression, tissue patterns, co-expression across 1M+ human/mouse samples. Retrieve z-scores, co-expressed genes, samples by metadata, HDF5 matrices. For variant population genetics use gnomad-database; for pathway enrichment use gget-genomic-databases (Enrichr).
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ETE Toolkit (ETE3): Python phylogenetic tree analysis and visualization. Parse Newick/NHX/PhyloXML, traverse/annotate nodes, render figures with TreeStyle/NodeStyle, integrate NCBI taxonomy, run PhyloTree comparative genomics. Use for species trees, gene family evolution, annotated tree figures.
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Biopython sequence analysis: parse FASTA/FASTQ/GenBank/GFF (SeqIO), NCBI Entrez (esearch/efetch/elink), remote/local BLAST, pairwise/MSA alignment (PairwiseAligner, MUSCLE/ClustalW), phylogenetic trees (Phylo). Use for gene family studies, phylogenomics, comparative genomics, NCBI pipelines. For PCR/restriction/cloning use biopython-molecular-biology; for SAM/BAM use pysam.
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Molecular biology toolkit: sequence manipulation, FASTA/GenBank/PDB I/O, NCBI Entrez, BLAST automation, pairwise/MSA alignment, Bio.PDB, phylogenetic trees. Use for batch processing, custom pipelines, format conversion, PubMed/GenBank queries. For quick gene lookups use gget; for multi-service REST APIs use bioservices.
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CPRA §1798.121 sensitive personal information restrictions and compliance. Covers all 9 sensitive PI categories including SSN, precise geolocation, racial/ethnic origin, biometric, genetic, health, and sex life data. Right to limit use/disclosure, permitted purposes, and implementation.
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Think and work like an expert Molecular Ecologist. Use when a task calls for Molecular Ecologist judgment. Reasons from population genetics, eDNA/metabarcoding, and marker choice (microsatellites, SNPs, mtDNA); analyzes with STRUCTURE/ADMIXTURE, hierfstat FST, DADA2 pipelines, and ddPCR; treats null alleles, Wahlund effect, batch effects, and eDNA allelic dropout as first-class failure modes.
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Think and work like an expert Molecular Neuroscientist. Use when a task calls for Molecular Neuroscientist judgment. Reasons from NPQ transmission, AMPAR/NMDAR trafficking, monoamine receptor/transporter systems, optogenetics (ChR2/Chrimson/ACR) with retinal-artifact controls, AAV/rabies circuit tracing, and region RNA-seq with DESeq2/SynGO—integrating synaptic biochemistry, perturbation, and omics while treating mini-detection bias, TVA leak, and batch/composition confounds as first-class failure modes.
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Think and work like an expert Hematologist. Use when a task calls for Hematologist judgment. Reasons from hematopoietic hierarchy, clonal evolution, and hemostatic balance through peripheral smear review, reticulocyte production index, flow cytometry, mixing studies, and WHO/ICC-anchored NGS and cytogenetics, while treating pseudothrombocytopenia, preanalytic line-draw and EDTA artifacts, and missed consumptive emergencies like TTP and DIC as first-class failure modes.
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Think and work like an expert Gerontologist. Use when a task calls for Gerontologist judgment. Reasons from senescence hallmarks, frailty, multi-morbidity, and life-course exposures through validated instruments (Fried phenotype, Rockwood CFS, SPPB/gait speed), epigenetic clocks (Horvath, PhenoAge, GrimAge), competing-risk survival (Fine-Gray), and NIA cohorts (HRS, NHATS, ITP) while treating survivor bias, differential attrition, healthy-volunteer bias, and frail-subset toxicity as first-class failure modes.
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Think and work like an expert Comparative Physiologist. Use when a task calls for Comparative Physiologist judgment. Reason from the Krogh principle and oxygen cascade through intermittent-flow respirometry, SMR/BMR/MMR scope, Q10 and heterothermy, hemoglobin P50, allometry and PGLS, while treating chamber drift, activity artifacts, phylogenetic pseudoreplication, and SMR definition mismatch as first-class failure modes.
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