georgiesamaha / BioinformaticsResources

List of tools and quick commands for various bioinformatics methods and datasets

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BioinformaticsResources

List of tools for various bioinformatics methods and datasets

NGS data processing

Genomics

Data type Tool Function Input requirements Resources
WGS Slivar Population-based annotation, filter variants vcf.gz Wiki
WGS SURVIVOR Filter, merge, evaluate structural variants vcf (not .gz) Wiki
WGS BCFtools Filter, merge, subset, evaluate vcfs vcf.gz Cheatsheet
WGS Hap.py Gold standard vcf comparison tool (haplotype based) vcf.gz Bio validation
WGS GRIDSS2 Structural variant caller bam Wiki
Array, WGS Plink Everything vcf, bcf, plink
Array SNPflip find reverse and ambiguous strand SNPs plink .bim
Reference Liftoff remap annotations between assemblies gff, gtf
WGS VCFvalidator Validate vcf integrity vcf.gz vcf.bz2
WGS LINX Somatic structural variant classification vcf Visualisation
WGS PURPLE Tumour purity and ploidy estimator bam, vcf GPL pipeline

RNAseq

Data type Tool Function Input requirements Resources
RNAseq TMPcalculator find reverse and ambiguous strand SNPs bam, gtf
RNAseq DESeq2 differential expression count matrix
RNAseq RNA-seqlopedia gene expression, annotation,splicing
scRNAseq Single cell RNAseq course

De novo transcriptomics

Data type Tool Function Input requirements Resources
De novo transcriptomics Trinity runtime profiling Understand resource requirements of a trinity run NA
De novo transcriptomics Trinity benchmarking Understand resource requirements of a trinity run NA

Pipeline/workflow management

Nextflow

DIY Nextflow tutorial
Building DSL2 pipelines

Galaxy

Galaxy training network

Useful curated bioinformatics script and resource repos

Who Repo Utility
PeterMac PMCC plotting, fastqc, rnaseq, performance, filtering
AstrobioMike Bioinformatics Tools filtering, db querying
davfre SAM and BAM oneliners read counting, filtering
EBI EBI Variation various
Hartwig medical foundation HMFtools Various WGS
Daniel Cook Awesome bioinformatics curated resource lists
nf-core nf-core tools nf-core helper scripts
AWS amazon-genomics-cli tool to simplify the processes of deploying the AWS infrastructure
BioWulf GATK benchmarking benchmarking, scalability of GATK commands
Xiaole Shirley Liu et al. Introduction to Bioinformatics and Computational Biology Course material for STAT115/215 BIO/BST282 at Harvard University

Compute resource profiling

Tool Platform
async-profiler cloud, VM
HPC usage reports HPC, Artemis, Gadi, Flashlite
Memray cloud, VM
NetData VM, cloud

Plotting

vcfR
CMplot
ggsashimi
BioCircos
karyotypeR
samplot
colourfindr
NanoPlot
Raincloud plots
chromoMap
nVennR
HaplotypePlot
Ideogram
R graph grammar
DiscoPlot

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List of tools and quick commands for various bioinformatics methods and datasets