BOL: Related items

Common steps for reads mapping !

BioStar — Thu, 09 Mar 2023 02:48:02 -0600

Mapping reads to a reference genome is an essential step in many types of genomic analysis, such as variant calling and gene expression analysis. Here are some general steps to follow for mapping reads to a genome:

Choose a read mapper: There are many read mappers available, such as BWA, Bowtie, and HISAT2. Choose a mapper that is appropriate for your type of data and research question.
Index the reference genome: Before mapping reads, the reference genome needs to be indexed. This involves creating an index of the genome sequence that allows the mapper to quickly find matches to the reads. Most mappers have their own indexing tools.
Prepare the read data: The reads should be in a format that is compatible with the mapper. Most mappers accept FASTQ or BAM files. Depending on the quality of the data, it may need to be filtered or trimmed before mapping.
Run the mapper: The mapper is run with the command-line interface or using a graphical user interface. The specific command depends on the mapper being used, but typically involves specifying the input data, reference genome, and output file format.
Evaluate the mapping results: After the mapping is complete, the results should be evaluated. This includes assessing the quality of the mapping, such as the mapping rate, the number of mapped reads, and the mapping quality score.
Post-processing: Depending on the analysis being performed, post-processing of the mapped reads may be necessary. This can include filtering reads based on quality, removing duplicate reads, and calling variants.

Overall, mapping reads to a reference genome is a complex process that requires careful consideration of the type of data, the research question, and the specific mapper being used.

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

Hello Python World !

Rahul Nayak — Mon, 14 May 2018 16:41:01 -0500

As I mentioned earlier, I will keep on posting one Python script per day to introduce you to Python programming. Whether you are an experienced programmer or not, this tutorial is intended for everyone who wishes to learn the Python programming language.

Python is a very simple language, and has a very straightforward syntax. The simplest directive in Python is the "print" directive - it simply prints out a line (and also includes a newline).

Create a file Hello.py

print("Hello, Python World !.")

Run

python3 Hello.py

DNA testing companies around the globe !

Jit — Thu, 13 Jul 2017 04:44:03 -0500

It was realized in the 1940s that DNA molecules are passed down through the generations of a family. In 1953 Watson and Crick elucidated the chemical structure of this molecule as a twisted ladder (a ‘helix’) made of two strands. DNA occurs in all the cells of our body, it is our blueprint! The strands of DNA contain information in the form of a code, which in turn determines our individual traits and characteristics. This code, the genetic code, is the order of four types of DNA building block. When the two strands of DNA separate, each building block (‘base’) accurately templates a corresponding base on the newly made strand of DNA so that information is not lost but is instead duplicated and preserved.

Testing for similarities between DNA (deoxyribonucleic acid) samples from two people allows family relationships to be established – or disproved – to an extraordinarily high degree of certainty. A common use for a DNA test is to establish if a man is the biological father of a child; this is known as a paternity test. However, there are other uses for the science of DNA testing (also called genotyping), these include forensic analysis of human DNA samples, and tracking relationships amongst domesticated animals.

The order in which the bases occur in DNA is referred to as the DNA sequence. Each person is unique and just as people differ in their fingerprints, they also have a unique and slightly different DNA sequence. Half of a person’s DNA is received from their mother, and half is received from the father. However, while fingerprints have no value for establishing family relationships, the minor variations in DNA sequence are extraordinarily useful for this purpose. All cells of our body contain DNA, skin cells from the lining of the cheek provide a simple and convenient source of material.

DNA is purified from these cells and the minor variations are read out as a type of bar-code by a machine. When the net DNA ‘barcodes’ from family members are lined up next to each other it becomes clear when a child is related to biological parents because half the stripes in the bar-code like signature will line up with those of the mother, and half will line up with those of the father. On the other hand, in the absence of a biological relationship, the DNA signatures from a child and from a potential parent are not found to have 50% in common. It may be appreciated that DNA testing is the most convenient and scientifically accurate method of determining relationships between people.

Following are the list of companies who qssist in DNA testing:

DNA testing companies

23andMe (admixture, adoption, deep ancestry, genealogy) (health and trait reports also available in some countries)
24 genetics (admixture, exome sequencing, health, paternity, pharmacogenetics, whole genome sequencing) A company catering for the Spanish market
African Ancestry (deep ancestry)
AfricanDNA (FTDNA affiliate) (admixture, deep ancestry, genealogy)
AncestrybyDNA (admixture, deep ancestry)
AncestryDNA, a subsidiary of Ancestry.com (admixture, adoption, genealogy)
Atlas Biomed (deep ancestry, diet, health and traits, sport) A test catering for the Russian market
BritainsDNA (formerly Ethnoancestry) (admixture, deep ancestry)
Centrillion Biosciences (aka TribeCode) (admixture, deep ancestry)
CymruDNAWales - see BritainsDNA
Dante Labs (exome sequencing, health, whole genome sequencing) A test aimed at the European market
DNA Ancestry and Family Origin (FTDNA affiliate in the Middle East) (admixture, adoption, deep ancestry, full mtDNA sequencing, genealogy)
DNA Consultants (admixture, deep ancestry)
DNA Tribes (admixture)
DNA Worldwide (formerly a FTDNA partner. See also Living DNA)
Ethnoancestry - see BritainsDNA
Family Tree DNA (admixture, adoption, deep ancestry, full mtDNA sequencing, genealogy, Y chromosome sequencing)
Full Genomes Corporation (whole genome sequencing, Y-chromosome sequencing)
Gene by Gene - the parent company of Family Tree DNA which now incorporates the companies previously known as DNA Traits, DNA DTC and DNA Findings (research, health, exome sequencing, whole genome sequencing)
Genebase (deep ancestry, genealogy)
GenoTek (admixture, genealogy, diet and fitness, family planning, health, talents and sports) A company catering for the Russian market
Genographic Project (admixture, deep ancestry)
Genos Research Inc (DTC whole exome sequencing; consumer focused healthcare big data spin out from Complete Genomics; Note: no genetic genealogy focus or tools)
Guardiome (admixture, whole genome sequencing and interpretation)
Helix (exome sequencing) US supplier of the Genographic Project Geno 2.0 Next Generation test
iGENEA (FTDNA affiliate) (admixture, deep ancestry, genealogy)
IrelandsDNA - See BritainsDNA (formerly Ethnoancestry)
MyDNA Global - a new name for BritainsDNA
Living DNA (admixture, deep ancestry) See also DNA Worldwide
MyHeritage DNA (admixture, genealogy)
Oxford Ancestors (deep ancestry)
Roots for Real (admixture, deep ancestry)
ScotlandsDNA - (formerly Ethnoancestry) (admixture, deep ancestry)
Sorenson Genomics (laboratory services)
Sure Genomics (whole genome sequencing and interpretation)
TribeCode See Centrillion Biosciences
Veritas Genetics (whole genome sequencing and interpretation)
Xcode (Diet and Fitness, Precision medicine, Genotyping, Sequencing, Interpretation)
YorkshiresDNA - See BritainsDNA (formerly Ethnoancestry)
WeGene (admixture, deep ancestry, health, sports, traits) A test tailored for the East Asian market
YSEQ (custom Y-SNPs, Y-STRs, SNP panels, whole genome sequencing)

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/