The pipeline consists of three steps/modules:

• redundancy reduction: detection and selectively removal of redundant contigs from an initial de novo assembly
• scaffolding: joining of genome fragments using paired-end and/or mate-pairs reads
• gap closing

Redundans is:

• fast & lightweight, multi-core support and memory-optimised, so it can be run even on the laptop for small-to-medium size genomes
• flexible toward many sequencing technologies (Illumina, 454 or Sanger) and library types (paired-end, mate pairs, fosmids)
• modular: every step can be ommited or replaced by another tools

Address of the bookmark: https://github.com/Gabaldonlab/redundans

The arguments accepted by ScaffMatch are:

  -w) Working directory -- this is the directory where ScaffMatch files are stored. These are .sam files produced after mapping reads to contigs and the resulting scaffolds file `scaffolds.fa` fasta file;

  -c) Contig fasta file;

  -m) Command line argument with no options. It is used when .sam files are used instead of reads .fastq files. Do not use this option if you provide reads files;

  -1) (Comma separated list of) either .fastq or .sam file(s) corresponding to the first read of the read pair;

  -2) (Comma separated list of) either .fastq or .sam file(s) corresponding to the second read of the read pair;

  -i) (Comma separated list of) insert size(s) of the library(-ies);

  -s) (Comma separated list of) library(-ies) standard deviation(s) of insert size(s);

  -t) Bundle threshold. Pairs of contigs supported by number of read pairs less than the value of this argument are discarded. Optional argument, by default it is equal to 5;

  -g) Matching heuristics: use `max_weight` for Maximum Weight Matching heuristics with the Insertion step, use `backbone` for Maximum Weight Matching heuristics without the Insertion step, use `greedy` for Greedy Matching heuristics;

  -l) Log file - where to store the logs. Optional argument. By default, stdout is used.

Address of the bookmark: http://alan.cs.gsu.edu/NGS/?q=content/scaffmatch

With Single Molecule, Real-Time (SMRT) Sequencing, you can access structural variations having a broad range of sizes, types, and GC content with the ability to:

• Uncover missing heritability linked to structural variation
• Unambiguously identify genomic context and variant breakpoints at the sequence level to unravel the genetic etiology of disease
• Resolve structural variation across the complete size spectrum with basepair resolution

Following are the SV tools, which can assist you to achieve your goal.

Sniffles: Structural variation caller using third generation sequencing

Sniffles is a structural variation caller using third generation sequencing (PacBio or Oxford Nanopore). It detects all types of SVs using evidence from split-read alignments, high-mismatch regions, and coverage analysis. Please note the current version of Sniffles requires sorted output from BWA-MEM (use -M and -x parameter) or NGM-LR with the optional SAM attributes enabled! 

More at https://github.com/fritzsedlazeck/Sniffles

MultiBreak-SV: It identifies structural variants from next-generation paired end data, third-generation long read data, or data from a combination of sequencing platforms.

There are two pieces of software in this release: (1) a pre-processor that takes machineformat (.m5) BLASR files, and (2) MultiBreak-SV. For installation and usage instructions, see doc/MultiBreakSV-Manual.txt.

More at https://github.com/raphael-group/multibreak-sv

Parliament: A Structural Variation Tool. Why ask a single sv-detection approach to find every variant when you can have a parliament of tools deciding?

Publication about the algorithm and “…the first long-read characterization of structural variation in a diploid human personal genome…” (HS1011) - “Assessing structural variation in a personal genome—towards a human reference diploid genome”

More at https://sourceforge.net/projects/parliamentsv/

https://www.dnanexus.com/papers/Parliament_Info_Sheet.pdf

PBHoney: the structural variation discovery tool 

PBHoney is an implementation of two variant-identification approaches designed to exploit the high mappability of long reads (i.e., greater than 10,000 bp). PBHoney considers both intra-read discordance and soft-clipped tails of long reads to identify structural variants.

Read The Paper http://www.biomedcentral.com/1471-2105/15/180/abstract

More at https://sourceforge.net/projects/pb-jelly/

SMRT-SV: Structural variant and indel caller for PacBio reads

Structural variant (SV) and indel caller for PacBio reads based on methods from Chaisson et al. 2014.

SMRT-SV provides an official software package for tools described in Chaisson et al. 2014 and adds several key features including the following.

• Unified variant calling user interface with built-in cluster compute support
• Small indel calling (2-49 bp)
• Improved inversion calling (screenInversions)
• Quality metric for SV calls based on number of local assemblies supporting each call
• Higher sensitivity for SV calls using tiled local assemblies across the entire genome instead of "signature" regions
• Genotyping of SVs with Illumina paired-end reads from WGS samples

More at https://github.com/EichlerLab/pacbio_variant_caller

Using the reference sequence dictionary (*.dict), it also creates some empty BAM files if no sam record was found for a chromosome. A pair of 'mock' SAM-Records can also be added to those empty BAMs to avoid some tools (like samtools) to crash.

Usage

java -jar splitbam.jar -p OUT/__CHROM__/__CHROM__.bam -R ref.fasta (bam|sam|stdin)

Options

• -h help; This screen.
• -R (indexed reference file) REQUIRED.
• -u (unmapped chromosome name): default:Unmapped
• -e | --empty : generate EMPTY bams for chromosome having no read mapped
• -m | --mock : if option '-e', add a mock pair of sam records to the empty bam
• -p (output file/bam pattern) REQUIRED. MUST contain __CHROM__ and end with .bam
• -s assume input is sorted.
• -x | --index create index.
• -t | --tmp (dir) tmp file directory
• -G (file) chrom-group file (see below)

Address of the bookmark: https://code.google.com/archive/p/jvarkit/wikis/SplitBam.wiki

More at http://faculty.iisertvm.ac.in/~nishantkt/index.html

http://katjulab.com/research.html

More at https://bitbucket.org/henryhzhang/rcircos/src

Address of the bookmark: https://bitbucket.org/henryhzhang/rcircos/src

Address of the bookmark: https://github.com/al2na/methylKit

Address of the bookmark: http://4dgenome.research.chop.edu/

The assembly process can be summarized as follows:

1. overlap
2. patch reads
3. overlap (again)
4. scrubbing
5. assembly graph construction and touring
6. optional read correction
7. fasta file creation

Address of the bookmark: https://github.com/schloi/MARVEL