BOL: Related items

Libraries or management tools for high throughput sequencing data

LEGE — Fri, 04 Oct 2024 02:45:06 -0500

GATB Library. The Genome Analysis Toolbox with de-Bruijn graph. A large part of tools developed by the GenScale team are based on this library.
These methods enable the analysis of data sets of any size on multi-core desktop computers, including very huge amount of reads data coming from any kind of organisms such as bacteria, plants, animals and even complex samples (e.g. metagenomes). Among them are (the full is available here: https://gatb.inria.fr/software/):
LRez: C++ Library and toolkit for the barcode-based management and indexation of linked-read datasets.

Variant calling and/or genotyping

DiscoSNP++ and discoSnpRAD: Reference-free small variant discovery (SNPs and indels)
MindTheGap: Detection and assembly of large insertion variants
TakeABreak: reference-free inversion discovery tool
SVJedi: Structural Variant genotyper with long read data
SVJedi-graph: Structural Variant genotyper with long read data using a variation graph

Sequence assembly

MinYS: reference-guided genome assembly in metagenomics data
MTG-link: local assembly tool for linked-read data
Minia: De novo short read assembler
de-novo pipeline: de-novo assembly pipeline (error correction / contigs / scaffolding) for genomes and meta-genomes
Mapsembler2: Targeted assembly (not maintained)

Managing k-mers & indexation

findere: simple strategy for speeding up queries and for reducing false positive calls from any Approximate Membership Query data structure.
- fimpera extends findere adding the abundance information.
kmtricks: modular tool suite for counting kmers, and constructing Bloom filters or kmer matrices, for large collections of sequencing data.
kmindex is a tool for indexing and querying sequencing samples. It is built on top of kmtricks.
back to sequences: Find sequences (reads, unitigs, genes) related to a set of kmers in large datasets, in a matter of seconds.
Backpack Quotient Filter: k-mer indexing data structure with abundance
short read connector: Detect similar reads from potentially large read set
DSK: Count K-mer in sequences

Pangenome graph manipulation

Pancat: Pangenome Comparison and Analysis Toolkit
GFAGraphs: a Python library to handle pangenome graph files in GFA format.

Comparative metagenomics with k-mers

Simka and SimkaMin: Comparative metagenomics for large-scale datasets
Comparead & Commet: comparison of metagenomic datasets

Species and bacterial strains identification

ORI: software using long nanopore reads to identify bacteria present in a sample at the strain level
StrainFLAIR: STRAIN-level proFiLing using vArIation gRaph

General-purpose sequencing data manipulation

GASSST: long read mapper
Leon: short read compressor (now included in GATB-core)
Bloocoo: short read corrector
BCALM: Construct compacted de Bruijn graphs (unitigs)

Protein Structure

A_Purva: Contact Map Overlap solver
MD-Jeep: Distance Geometry solver
CSA: Comparative Structural Alignment

Workflow

SLICEE: parallel execution of bioinformatics workflows

Comparative Genomics

CASSIS: detection of rearrangement breakpoints
PLAST: intensive bank-to-bank sequence comparison
DRJBreakpointFinder: detection and precise localization of excision sites in proviral segments

List of bioinformatics workflow management tools !

Rahul Nayak — Sat, 20 Mar 2021 00:15:25 -0500

Here are list of Workflow Managers

BigDataScript – A cross-system scripting language for working with big data pipelines in computer systems of different sizes and capabilities. [ paper-2014 | web ]
Bpipe – A small language for defining pipeline stages and linking them together to make pipelines. [ web ]
Common Workflow Language – a specification for describing analysis workflows and tools that are portable and scalable across a variety of software and hardware environments, from workstations to cluster, cloud, and high performance computing (HPC) environments. [ web ]
Cromwell – A Workflow Management System geared towards scientific workflows. [ web ]
Galaxy – a popular open-source, web-based platform for data intensive biomedical research. Has several features, from data analysis to workflow management to visualization tools. [ paper-2018 | web ]
Nextflow (recommended) – A fluent DSL modelled around the UNIX pipe concept, that simplifies writing parallel and scalable pipelines in a portable manner. [ paper-2018 | web ]
Ruffus – Computation Pipeline library for python widely used in science and bioinformatics. [ paper-2010 | web ]
SeqWare – Hadoop Oozie-based workflow system focused on genomics data analysis in cloud environments. [ paper-2010 | web ]
Snakemake – A workflow management system in Python that aims to reduce the complexity of creating workflows by providing a fast and comfortable execution environment. [ paper-2018 | web ]
Workflow Descriptor Language – Workflow standard developed by the Broad. [ web ]

Qualimap2: Evaluating next generation sequencing alignment data

Jit — Tue, 11 Sep 2018 04:44:29 -0500

Qualimap 2 is a platform-independent application written in Java and R that provides both a Graphical User Inteface (GUI) and a command-line interface to facilitate the quality control of alignment sequencing data and its derivatives like feature counts.

Supported types of experiments include:

Whole-genome sequencing
Whole-exome sequencing
RNA-seq (speical mode available)
ChIP-seq

Address of the bookmark: http://qualimap.bioinfo.cipf.es/

Pacasus: Correction of palindromes in long reads from PacBio and Nanopore

BioStar — Mon, 12 Nov 2018 05:26:48 -0600

Tool for detecting and cleaning PacBio / Nanopore long reads after whole genome amplification. Check the poster from the Revolutionizing Next-Generation Sequencing (2nd edition) conference in the source folder: https://github.com/swarris/Pacasus/blob/master/vib2017.pdf.

The prepint version is found on http://www.biorxiv.org/content/early/2017/08/09/173872

It uses the pyPaSWAS framework for sequence alignment (https://github.com/swarris/pyPaSWAS)

Address of the bookmark: https://github.com/swarris/Pacasus

Shasta long read assembler

Jit — Tue, 14 Jan 2020 06:47:07 -0600

The goal of the Shasta long read assembler is to rapidly produce accurate assembled sequence using as input DNA reads generated by Oxford Nanopore flow cells.

Computational methods used by the Shasta assembler include:

Using a run-length representation of the read sequence. This makes the assembly process more resilient to errors in homopolymer repeat counts, which are the most common type of errors in Oxford Nanopore reads.
Using in some phases of the computation a representation of the read sequence based on markers, a fixed subset of short k-mers (k ≈ 10).

More at https://chanzuckerberg.github.io/shasta/index.html

Address of the bookmark: https://github.com/chanzuckerberg/shasta

mutatrix: a population genome simulator which generates simulated genomes.

Jit — Tue, 28 Jan 2020 04:06:58 -0600

genome simulation across a population with zeta-distributed allele frequency, snps, insertions, deletions, and multi-nucleotide polymorphisms

More at https://github.com/ekg/mutatrix

./mutatrix -S sample -P test/ -p 2 -n 10 reference.fasta

Address of the bookmark: https://github.com/ekg/mutatrix

Perl Special Vars Quick Reference

Abhimanyu Singh — Tue, 07 Feb 2017 05:08:47 -0600

`$_`	The default or implicit variable.
`@_`	Subroutine parameters.
`$a` `$b`	sort comparison routine variables.
`@ARGV`	The command-line args.
Regular Expressions
`$`	Regexp parenthetical capture holders.
`$&`	Last successful match (degrades performance).
`${^MATCH}`	Similar to `$&` without performance penalty. Requires /p modifier.
$`	Prematch for last successful match string (degrades performance).
`${^PREMATCH}`	Similar to $` without performance penalty. Requires `/p` modifier.
`$'`	Postmatch for last successful match string (degrades performance).
`${^POSTMATCH}`	Similar to `$'` without performance penalty. Requires `/p` modifier.
`$+`	Last paren match.
`$^N`	Last closed paren match (last submatch).
`@+`	Offsets of ends of successful submatches in scope.
`@-`	Offsets of starts of successful submatches in scope.
`%+`	Like `@+`, but for named submatches.
`%-`	Like `@-`, but for named submatches.
`$^R`	Last regexp (?{code}) result.
`${^RE_DEBUG_FLAGS}`	Current value of regexp debugging flags. See `use re 'debug';`
`${^RE_TRIE_MAXBUF}`	Control memory allocations for RE optimizations for large alternations.
Encoding
`${^ENCODING}`	The object reference to the Encode object, used to convert the source code to Unicode.
`${^OPEN}`	Internal use: \0 separated Input / Output layer information.
`${^UNICODE}`	Read-only Unicode settings.
`${^UTF8CACHE}`	State of the internal UTF-8 offset caching code.
`${^UTF8LOCALE}`	Indicates whether UTF8 locale was detected at startup.
IO and Separators
`$.`	Current line number (or record number) of most recent filehandle.
`$/`	Input record separator.
`$\|`	Output autoflush. 1=autoflush, 0=default. Applies to currently selected handle.
`$,`	Output field separator (lists)
`$\`	Output record separator.
`$"`	Output list separator. (interpolated lists)
`$;`	Subscript separator. (Use a real multidimensional array instead.)
Formats
`$%`	Page number for currently selected output channel.
`$=`	Current page length.
`$-`	Number of lines left on page.
`$~`	Format name.
`$^`	Name of top-of-page format.
`$:`	Format line break characters
`$^L`	Form feed (default "\f").
`$^A`	Format Accumulator
Status Reporting
`$?`	Child error. Status code of most recent system call or pipe.
`$!`	Operating System Error. (What just went 'bang'?)
`%!`	Error number hash
`$^E`	Extended Operating System Error (Extra error explanation).
`$@`	Eval error.
`${^CHILD_ERROR_NATIVE}`	Native status returned by the last pipe close, backtick (`` ) command, successful call to wait() or waitpid(), or from the system() operator.
ID's and Process Information
`$$`	Process ID
`$<`	Real user id of process.
`$>`	Effective user id of process.
`$(`	Real group id of process.
`$)`	Effective group id of process.
`$0`	Program name.
`$^O`	Operating System name.
Perl Status Info
`$]`	Old: Version and patch number of perl interpreter. Deprecated.
`$^C`	Current value of flag associated with -c switch.
`$^D`	Current value of debugging flags
`$^F`	Maximum system file descriptor.
`$^I`	Value of the -i (inplace edit) switch.
`$^M`	Emergency Memory pool.
`$^P`	Internal variable for debugging support.
`$^R`	Last regexp (?{code}) result.
`$^S`	Exceptions being caught. (eval)
`$^T`	Base time of program start.
`$^V`	Perl version.
`$^W`	Status of -w switch
`${^WARNING_BITS}`	Current set of warning checks enabled by `use warnings;`
`$^X`	Perl executable name.
`${^GLOBAL_PHASE}`	Current phase of the Perl interpreter.
`$^H`	Internal use only: Hook into Lexical Scoping.
`%^H`	Internaluse only: Useful to implement scoped pragmas.
`${^TAINT}`	Taint mode read-only flag.
`${^WIN32_SLOPPY_STAT}`	If true on Windows `stat()` won't try to open the file.
Command Line Args
`ARGV`	Filehandle iterates over files from command line (see also `<>`).
`$ARGV`	Name of current file when reading <>
`@ARGV`	List of command line args.
`ARGVOUT`	Output filehandle for -i switch
Miscellaneous
`@F`	Autosplit (-a mode) recipient.
`@INC`	List of library paths.
`%INC`	Keys are filenames, values are paths to modules included via `use, require,` or `do`.
`%ENV`	Hash containing current environment variables
`%SIG`	Signal handlers.
`$[`	Array and substr first element (Deprecated!).

See perlvar for detailed descriptions of each of these (and a few more) special variables.

Researcher in computer science/biology

Mon, 15 Jul 2013 18:38:40 -0500

Researcher in Computer Science at the Computational Biology Unit - temporary employment

The Department of Informatics is a vacant position as a researcher in computer science, related to Computational Biology Unit (CBU), for 3 years.

The position is part of CBU Service Group and will focus on bioinformatic analysis project and especially the analysis of high-throughput data, including NGS (sequencing), and proteomics data.

The successful candidate will be part of the Norwegian bioinformatics platform's national helpdesk within the project ELIXIR.NO

Applicants must hold a PhD in a relevant subject such as computer science, mathematics, molecular biology and also possess expertise and experience in bioinformatics statistics and analysis of data from high-throughput molecular experiment.

Basic programming or scripting skills are required. Experience in Python, R, Perl, Linux-based operating systems and moreover knowledge of databases and web programming will be a strength for applicants.

We expect enthusiasm and independence and moreover the ability to work in an interdisciplinary team environment.

Good knowledge of English is required.

Salaries start at level 57 (code 1109/LR 24.1) by appointment. Further promotion occurs after
service seniority in the position (at grade 57-65). Of particularly highly qualified applicants may be considered a higher salary.

Further information about the position is available from the chair of the CBU,
Professor Inge Jonassen, e-mail: Inge.Jonassen @ ii.uib.no

The successful applicant must comply with the guidelines that apply at any given time the position.

State employment shall as far as possible reflect the diversity of the population. It is therefore an objective to achieve a balanced age and sex composition and the recruitment of persons with immigrant backgrounds. Persons with immigrant background are requested to apply for the position.

Women are particularly encouraged to apply. If the experts find that several applicants have approximately equivalent qualifications, the rules on equal in the Personnel Regulations for Academic Positions will be applied.

University of Bergen applies the principles of public openness when recruiting staff to scientific positions.

Information about the applicant may be made public even though the applicant has requested not to be named in the list of applicants. If the request does not host admitted to the result, the applicant shall be notified of this.

Send application, CV, certificates, diplomas, undergraduate work and a list of publications (list of publications) online by clicking on https://www.jobbnorge.no/jobbsoknet/login.aspx?returnurl=/jobbsoknet/jobapplication.aspx?jobid=95196

You need to upload certified translations into English or a Scandinavian language of appendices, such as diplomas and transcripts.

Applications sent by email to individuals at the institute will not be considered.

Deadline: 9 August 2013

3rd Annual Next Generation Sequencing Asia Congress 2013 at Singapore, Singapore

Wed, 14 Aug 2013 09:55:04 -0500

The 3rd Annual Next Generation Sequencing Asia Congress is to be held on the 22nd and 23rd of October 2013 in Singapore. Over the 2 days, the conference will provide an overview of the current options of next-generation sequencing platforms, technologies, applications and the newest computational tools for the analysis of next-generation sequencing data and analytical genomics as well as overcoming data management problems. The event will attract over 200 senior-level decision makers working in areas such as next generation sequencing, analytical genomics, computational biology, oncology, RNA profiling, molecular genomics, biomarkers, bioinformatics & data management and clinical & diagnostics development.

Dated : 22 Nov 2013 -23 Nov 2013

http://www.ngsasia-congress.com/

Next Generation Sequencing (NGS) Tutorials

Jitendra Narayan — Sat, 24 Aug 2013 06:01:37 -0500

Institute of computational biomedicine, Cornell University provide an NGS workshop tutorial at http://chagall.med.cornell.edu/NGScourse/

You can also add your favourite NGS educational material, or workshop tutorial by commenting on this bookmarks for user benefit.

Understanding the basics of genome sequencing:

Tutorial by Luke Jostins.

http://www.genetic-inference.co.uk/blog/2009/04/basics-sequencing-dna-part-1/

http://www.genetic-inference.co.uk/blog/2009/08/basics-sequencing-dna-part-2/

A window into third-generation sequencing

http://hmg.oxfordjournals.org/content/19/R2/R227.full.pdf

==============================================

NGS data analysis pipelines

Detecting and annotating genetic variations using the HugeSeq pipeline DOI: 10.1038/nbt.2134
NARWHAL, a primary analysis pipeline for NGS data http://bioinformatics.oxfordjournals.org/cgi/content/abstract/28/2/284?etoc
RseqFlow: Workflows for RNA-Seq data analysis DOI: 10.1093/bioinformatics/btr441
ngs_backbone: a pipeline for read cleaning, mapping and SNP calling using Next Generation Sequence 10.1186/1471-2164-12-285
A framework for variation discovery and genotyping using next-generation DNA sequencing data PubMed: 21478889
SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects DOI: 10.1186/1471-2105-12-134 Abstract: http://www.biomedcentral.com/1471-2105/12/134/abstract
WEP: a high-performance analysis pipeline for whole-exome data http://www.biomedcentral.com/1471-2105/14/S7/S11
DDBJ read annotation pipeline: a cloud computing-based pipeline for high-throughput analysis of next-generation sequencing data. http://www.ncbi.nlm.nih.gov/pubmed/23657089
GATK: a Toolkit for Genome Analysis http://www.broadinstitute.org/gatk/
Metagenomics:http://www.nbic.nl/education/nbic-phd-school/course-schedule/ngsmetagenomics/
RNASeq:http://www.nbic.nl/education/nbic-phd-school/course-schedule/ngsrnaseq/
Bioinformatics and Seq courses: http://www.isb-sib.ch/training/training-activities-schedule/archive-2013.html
Variant Detection (Model organism) Advanced tutorial https://docs.google.com/document/pub?id=1CuKkKylVDb03tnN7RSWl5EUzleetn0ctjmvaidPKLxM
Variant Detection Introductory tutorial https://docs.google.com/document/pub?id=1ZRzrjjOCvtAu3m-IKL-rbJ1f4On60dDL_IEwG7oejdI
Microbial de novo Assembly for Illumina Data Introductory tutorial https://docs.google.com/document/pub?id=1N3AB9ptISUu4zULqe1kXpVF0BDyGb5f5yzxWSJd_WNM
RNAseq Differential Gene Expression Introductory tutorial https://docs.google.com/document/pub?id=1KbTiBHtvHLfPRZ39AY3uriazrINA8TJzgjjwn1zPP7Y

" Please add your favourite NGS link below in comment section for the benefit of bioinformatics community ".

Address of the bookmark: http://chagall.med.cornell.edu/NGScourse/