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appendix-v.-software-and-tools.md

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Appendix V. Software and Tools

1) Genome Browsers

see more in our Tutorial

2) DNA-seq

(2.1) Mapping and QC

(2.2) Mutation

(2.3) Assembly

  • denovo assembly software: Trinity

(2.4) CNV

(2.5) SV (structural variation)

3) RNA-seq

(3.1) RNA-seq

(3.2) Single Cell RNA-seq (scRNA-seq)

  • Selected Software providers for scRNA-seq analysis

Nature Biotechnology 2020 38(3):254-257

Software name Developer Price structure Platform-specific Relevant stages of experiment
Cell Ranger 10X Genomics Free download 10X Chromium Raw read alignment, QC and matrix generation for scRNA-seq and ATAC-seq; data normalization; dimensionality reduction and clustering
Loupe Cell Browser 10X Genomics Free download 10X Chromium Visualization and analysis
Partek Flow Partek License No Complete data analysis and visualization pipeline for scRNA-seq data
Qlucore Omics Explorer Qlucore License No scRNA-seq data filtering, dimensionality reduction and clustering, visualization
mappa Analysis Pipeline Takara Bio Free download Takara ICell8 Raw read alignment and matrix generation for scRNA-seq
hanta R kit Takara Bio Free download Takara ICell8 Clustering and analysis of mappa data
Singular Analysis Toolset Fluidigm Free download Fluidigm C1 or Biomark Analysis and visualization of differential gene expression data for scRNA-seq
SeqGeq FlowJo/BD Biosciences License No Data normalization and QC, dimensionality reduction and clustering, analysis and visualization
Seven Bridges Seven Bridges/BD Biosciences License BD Rhapsody and Precise Cloud-based raw read alignment, QC and matrix generation
Tapestri Pipeline/Insights Mission Bio Free download Mission Bio Tapestri Analysis of single-cell genomics data
BaseSpace SureCell Illumina License Illumina SureCell libraries Raw read alignment and matrix generation
OmicSoft Array Studio Qiagen License No Raw read alignment, QC and matrix generation, dimensionality reduction and clustering

QC, quality control; ATAC-seq, assay for transposase-accessible chromatin using sequencing.

4) Interactome

(4.1) ChIP-seq

(4.2) CLIP-seq

(4.3) Motif analysis

sequence

  1. MEME motif based sequence analysis tools http://meme-suite.org/
  2. HOMER Software for motif discovery and next-gen sequencing analysis http://homer.ucsd.edu/homer/motif/

structure

  1. RNApromo Computational prediction of RNA structural motifs involved in post transcriptional regulatory processes https://genie.weizmann.ac.il/pubs/rnamotifs08/
  2. GraphProt modeling binding preferences of RNA-binding proteins http://www.bioinf.uni-freiburg.de/Software/GraphProt/

5) Epigenetic Data

(5.1) ChIP-seq

(5.2) DNAase-seq

(5.3) ATAC-seq

6) Chromatin and Hi-C

More: Lu Lab shared tools and scripts

More: Software for the ages

Software Purpose Creators Key capabilities Year released Citationsa
BLAST Sequence alignment Stephen Altschul, Warren Gish, Gene Myers, Webb Miller, David Lipman First program to provide statistics for sequence alignment, combination of sensitivity and speed 1990 35,617
R Statistical analyses Robert Gentleman, Ross Ihaka Interactive statistical analysis, extendable by packages 1996 N/A
ImageJ Image analysis Wayne Rasband Flexibility and extensibility 1997 N/A
Cytoscape Network visualization and analysis Trey Ideker et al. Extendable by plugins 2003 2,374
Bioconductor Analysis of genomic data Robert Gentleman et al. Built on R, provides tools to enhance reproducibility of research 2004 3,517
Galaxy Web-based analysis platform Anton Nekrutenko, James Taylor Provides easy access to high-performance computing 2005 309b
MAQ Short-read mapping Heng Li, Richard Durbin Integrated read mapping and SNP calling, introduced mapping quality scores 2008 1,027
Bowtie Short-read mapping Ben Langmead, Cole Trapnell, Mihai Pop, Steven Salzberg Fast alignment allowing gaps and mismatches based on Burrows-Wheeler Transform 2009 1,871
Tophat RNA-seq read mapping Cole Trapnell, Lior Pachter, Steven Salzberg Discovery of novel splice sites 2009 817
BWA Short-read mapping Heng Li, Richard Durbin Fast alignment allowing gaps and mismatches based on Burrows-Wheeler Transform 2009 1,556
Circos Data visualization Martin Krzywinski et al. Compact representation of similarities and differences arising from comparison between genomes 2009 431
SAMtools Short-read data format and utilities Heng Li, Richard Durbin Storage of large nucleotide sequence alignments 2009 1,551
Cufflinks RNA-seq analysis Cole Trapnell, Steven Salzberg, Barbara Wold, Lior Pachter Transcript assembly and quantification 2010 710
IGV Short-read data visualization James Robinson et al. Scalability, real-time data exploration 2011 335
N/A, paper not available in Web of Science.

From: The anatomy of successful computational biology software