BOL: Related items

JCVI utility libraries

Jit — Sat, 08 May 2021 22:04:02 -0500

Collection of Python libraries to parse bioinformatics files, or perform computation related to assembly, annotation, and comparative genomics.

Address of the bookmark: https://github.com/tanghaibao/jcvi

Software and Tools to detect structure variation with long reads !!

Archana Malhotra — Wed, 15 Mar 2017 14:31:09 -0500

Uncovering the connection between genetics and heritable diseases requires an approach that looks at all the variant bases and types in a genome. While a PacBio de novo assembly resolves the most novel SV variants. 8-10X PacBio coverage of single genomes or trios reveals triple the SVs detectable by short-read data.

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

Fools guide

Poonam Mahapatra — Sun, 02 Apr 2017 14:31:18 -0500

This website and accompaning documents are intended as a tool to help researchers dealing with non-model organisms acquire and process transcriptomic high-throughput sequencing data without having to learn extensive bioinformatics skills. It covers all steps from tissue collection, sample preparation and computer setup, through addressing biological questions with gene expression and SNP data.

http://sfg.stanford.edu/denovo.html

http://sfg.stanford.edu/sequencing.html

http://sfg.stanford.edu/BLAST.html

http://sfg.stanford.edu/denovo.html

Address of the bookmark: http://sfg.stanford.edu/guide.html

Structural polymorphism analysis from NGS data

Sat, 13 Jul 2013 17:12:47 -0500

The LabEx BASC (Biodiversity, Agroecosystems, Society, Climate), a network of 13 laboratories of the Paris-Saclay Scientific Cluster, is seeking a bioinformatician to analyze Next Generation Sequencing (NGS) data analysis. In the context of a flagship project aiming at understanding and improving the adaptive capacity of agroecosystems it will be critical to establish a link between sequence variation, functional variation, gene/protein expression and phenotypic adaptation.

The successful candidate will be in charge of the detection of polymorphisms including structural variants, of the comparison of multiple and diverse genomes of a same species and of the construction of pan- and core-genomes. These challenging tasks will require bioinformatics developments and implementation of methods for accommodating the high level of repetitiveness of complex genomes. The tools will be integrated into pipelines and made available to end-users through the Galaxy platform. The bioinformatician will therefore also have to provide researchers with advices on their experimental designs in order to ensure compliance of produced datasets with pipelines requirements. He/she will be hosted by a bioinformatics/informatics team (7 people) (http://moulon.inra.fr/index.php/fr/equipestransversales/atelier-de-bioinformatique) which has computational facilities and expertise in NGS data analysis, and will benefit as well from national and international collaborative networks (Aplibio http://www.renabi.fr/platforms/aplibio/, Transplant http://transplantdb.eu, AMAIZING http://www.amaizing.fr/).

The position requires a doctoral degree (PhD) in bioinformatics with strong expertise in script writing (Python/Perl) and pipeline development.

Applicants should send a CV and the names of 2 referees willing to provide a letter of recommendation to joets@moulon.inra.fr.

Mapping NGS

Abhimanyu Singh — Tue, 02 May 2017 07:58:07 -0500

NGS data are just a bunch of sequences, you have no idea which region in the genome each sequences comes from, which gene it represents...
To know that you have to align the sequences to the reference sequence. The reference sequence is in most cases the full genome sequence but sometimes, a library of EST sequences is used.
In either way, aligning your sequence reads to the reference sequence is called mapping.

The most used mappers of DNA-seq data are BWA and Bowtie for DNA-Seq data and Tophat, STAR or HISAT for RNA-Seq data. Mappers differ in which options they can take in, how fast and how accurate they are. Bowtie is faster than BWA, but looses some sensitivity (does not map an equal amount of reads to the correct position in the genome).

Address of the bookmark: http://wiki.bits.vib.be/index.php/Mapping_of_NGS_data

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/

Cancer's origins revealed

Jitendra Narayan — Thu, 15 Aug 2013 13:06:56 -0500

Researchers have provided the first comprehensive compendium of mutational processes that drive tumour development. Together, these mutational processes explain most mutations found in 30 of the most common cancer types. This new understanding of cancer development could help to treat and prevent a wide-range of cancers.

More at >> http://www.sanger.ac.uk/about/press/2013/130814.html

Computer Theory & Genetics: George Chao at TEDxUMNSalon

Thu, 15 Aug 2013 22:08:10 -0500

George Chao is an undergraduate senior studying Genetics and Computer Science at the University of Minnesota. Having started genetics research as soon as he entered the university, he has worked in labs spanning multiple disciplines as well as in Japan. Some of these researches include developmental genetics in Drosophila, computational techniques for analyzing protein interactions, and helping with the development of algorithms to analyze motion capture data of patients with neck pain. During this time, George steadily developed a fascination with the field of bioinformatics, the study of using computational techniques to learn from genetic data. He would like to go into a career of research into the application of bioinformatics in various fields. ---- The individuals involved with TEDxUMN have a passion for bringing together the great thinkers at the University of Minnesota and giving them the opportunity to share their ideas worth spreading and to discuss our shared future. We provide these great people the opportunity to share these ideas on a global stage and with an incredibly diverse audience. We believe in the power of ideas to change attitudes, lives and ultimately the world. Check out TEDxUMN at http://www.TEDxUMN.com/ In the spirit of ideas worth spreading, TEDx is a program of local, self-organized events that bring people together to share a TED-like experience. At a TEDx event, TEDTalks video and live speakers combine to spark deep discussion and connection in a small group. These local, self-organized events are branded TEDx, where x = independently organized TED event. The TED Conference provides general guidance for the TEDx program, but individual TEDx events are self-organized.* (*Subject to certain rules and regulations)

Senior Scientist (Bioinformatics/ IT) at Regional Centre for Biotechnology

Tue, 30 Jun 2020 22:04:20 -0500

Regional Centre for Biotechnology

An Institution of National Importance established by Dept. of
Biotechnology, Govt. of India Under the auspices of UNESCO

Advertisement No. RCB/IBDC/01/2020/Recruitment/HR

Recruitment For Contractual Positions Under The Project
Indian Biological Data Centre (IBDC) Phase-1

Regional Centre for Biotechnology (RCB) invites online applications from suitably qualified, dynamic, result-oriented and dedicated candidates for the following positions under the project Indian Biological Data Centre (BIDC) Phase-1 on contract basis:

Industry: Biotechnology

Location: Faridabad (Haryana, India)

Project Head - 1

Senior Scientist (Bioinformatics/ IT) - 1

For other details, visit: www.rcb.res.in. Last date for receipt of online application is 18th July 2020.

Registrar

Regional Centre for Biotechnology
Faridabad-Gurgaon Expressway,
Faridabad - 121001

4 positions in high throughput computational metagenomics and systems biology of natural products

Tue, 20 Aug 2013 08:42:29 -0500

The Research and Innovation Centre at the Fondazione Edmund Mach (CRI-FEM) is a major international research institution with strong and expanding research interests in Fruit Genomics, Quality Health and Nutrition of Agricultural Products, Agro-ecosystems Sustainability, Biodiversity and Molecular Ecology.

CRI-FEM hosts GMPF, an International PhD Program in Genomics and Molecular Physiology of Fruit Crops and Fox-Lab, an international initiative in forest and wood research.
4 positions in high throughput computational metagenomics and systems biology of natural products - deadline September 30th, 2013

To support interdisciplinary research, CRI-FEM has established the Computational Biology Centre (CBC).

The mission of CBC is to develop systems-level integrative approaches connecting genotype to phenotype with a special focus on genome-wide analyses and next generation sequencing technologies.

CRI-FEM is seeking to attract 4 high calibre scientists in the areas of high throughput computational metagenomics and systems biology of natural products.

Here below the list of the 4 positions:

http://www.fmach.it/eng/Servizi-Generali/Lavora-con-noi/Annunci-lavoro-e-borse-di-studio/Details-of-the-5-positions-in-high-throughput-computational-metagenomics-and-systems-biology-of-natural-products-deadline-September-30th-2013/Post-doc-in-Metagenomics-screening-and-characterization-of-bioactive-microbial-compounds-130_CRI_MSC

http://www.fmach.it/eng/Servizi-Generali/Lavora-con-noi/Annunci-lavoro-e-borse-di-studio/Details-of-the-5-positions-in-high-throughput-computational-metagenomics-and-systems-biology-of-natural-products-deadline-September-30th-2013/Post-doc-in-Modeling-transcriptional-control-programs-at-a-genome-wide-scale-131_CRI_TCP

http://www.fmach.it/eng/Servizi-Generali/Lavora-con-noi/Annunci-lavoro-e-borse-di-studio/Details-of-the-5-positions-in-high-throughput-computational-metagenomics-and-systems-biology-of-natural-products-deadline-September-30th-2013/Technologist-in-Purification-of-plant-bioactive-molecules-from-complex-matrixes-132_CRI_PBM

http://www.fmach.it/eng/Servizi-Generali/Lavora-con-noi/Annunci-lavoro-e-borse-di-studio/Details-of-the-5-positions-in-high-throughput-computational-metagenomics-and-systems-biology-of-natural-products-deadline-September-30th-2013/Researcher-in-Methods-for-algorithmic-and-integrative-genomics-for-metagenomics-134_CRI_AIG

For more information on the CBC or informal inquiries on the advertised positions please contact Dr Duccio Cavalieri (e-mail duccio.cavalieri@fmach.it).