BOL: Related items

AIRVF: a filtering toolbox for precise variant calling in Ion Torrent sequencing

BioStar — Fri, 22 Dec 2017 00:31:06 -0600

AIRVF that works on flowgram, raw and mapped reads and called variants to reduce artifact-driven false variant calls. Tests on sequencing data of standard reference material showed up to ∼98% reduction of false variants when combined to conventional public pipelines and ∼48% to the in-house commercial solution, with a minimal loss of sensitivity

The program with a detailed manual is available at https://sourceforge.net/projects/airvf/

Address of the bookmark: https://sourceforge.net/projects/airvf/

VG: variation graph data structures, interchange formats, alignment, genotyping, and variant calling methods

Jit — Tue, 28 Jan 2020 03:53:24 -0600

Variation graphs provide a succinct encoding of the sequences of many genomes. A variation graph (in particular as implemented in vg) is composed of:

nodes, which are labeled by sequences and ids
edges, which connect two nodes via either of their respective ends
paths, describe genomes, sequence alignments, and annotations (such as gene models and transcripts) as walks through nodes connected by edges

Address of the bookmark: https://github.com/vgteam/vg

Best Practices for Variant Calling with the GATK

biogeek — Sat, 22 Feb 2020 03:07:31 -0600

The presentations below were filmed during the March 2015 GATK Workshop, part of the BroadE Workshop series. At the time of this workshop, the current version of Broad’s Genome Analysis Toolkit (GATK) was version 3.3.

Genome Analysis Toolkit

03/19/15	Introduction to High-Throughput Sequencing data formats and methods	Joel Thibault	PDF	Video
03/19/15	Introduction to the GATK	Geraldine Van der Auwera	PDF	Video
03/19/15	Mapping, processing, and duplicate marking with Picard tools	Matt Sooknah	PDF	Video
03/19/15	Mapping and processing RNAseq	Ami Levy-Moonshine	PDF	Video
03/19/15	Indel realignment	Mark Fleharty	PDF	Video
03/19/15	Base quality score recalibration	David Roazen	PDF	Video
03/19/15	Introduction to variant discovery: calling cohorts	Louis Bergelson	PDF	Video
03/19/15	Variant calling and joint genotyping	Sheila Chandran	PDF	Video
03/19/15	Variant quality score recalibration	Bertrand Haas	PDF	Video
03/19/15	Introduction to working with variants	Yossi Farjoun	PDF	Video
03/19/15	Genotype refinement	Laura Gauthier	PDF	Video
03/19/15	Annotation and variant evaluation	David Benjamin	PDF	Video

Address of the bookmark: https://www.broadinstitute.org/partnerships/education/broade/best-practices-variant-calling-gatk-1

Snippy: Rapid haploid variant calling and core SNP phylogeny

Neel — Sat, 11 Aug 2018 11:06:56 -0500

Snippy finds SNPs between a haploid reference genome and your NGS sequence reads. It will find both substitutions (snps) and insertions/deletions (indels). It will use as many CPUs as you can give it on a single computer (tested to 64 cores). It is designed with speed in mind, and produces a consistent set of output files in a single folder. It can then take a set of Snippy results using the same reference and generate a core SNP alignment (and ultimately a phylogenomic tree).

snippy --cpus 16 --outdir mysnps --ref Listeria.gbk --R1 FDA_R1.fastq.gz --R2 FDA_R2.fastq.gz

Address of the bookmark: https://github.com/tseemann/snippy

UnCoVar: Workflow for Transparent and Robust Virus Variant Calling, Genome Reconstruction and Lineage Assignment

BioStar — Mon, 05 Aug 2024 23:01:29 -0500

UnCoVar: Workflow for Transparent and Robust Virus Variant Calling, Genome Reconstruction and Lineage Assignment

Using state of the art tools, easily extended for other viruses
Tool and database updates for critical components via Conda
Built using modern design patterns with Conda and Snakemake
Extensible and easy to customize
Submission Ready Genomes
Customizable reporting with comprehensive visualization

https://ikim-essen.github.io/uncovar/

Github https://github.com/IKIM-Essen/uncovar

Address of the bookmark: https://ikim-essen.github.io/uncovar/

Ensembl Variation - Calculated variant consequences

Jit — Sun, 09 Sep 2018 19:17:37 -0500

For each variant that is mapped to the reference genome, we identify all overlapping Ensembl transcripts. We then use a rule-based approach to predict the effects that each allele of the variant may have on each transcript. The set of consequence terms, defined by the Sequence Ontology (SO), that can be currently assigned to each combination of an allele and a transcript is shown in the table below. Note that each allele of each variant may have a different effect in different transcripts.

Address of the bookmark: https://www.ensembl.org/info/genome/variation/prediction/predicted_data.html

Pimp your brain: Bioinformatics

Wed, 20 Aug 2014 22:09:21 -0500

Jan Lisec from the Max Planck Institute of Molecular Plant Physiology explains, in this "pimp your brain" episode, what bioinformatics is and why bioinformatics is so important and indispensable for biological research. In the video serial "Pimp your brain" scientists from the Max Planck Institute of Molecular Plant Physiology describe their research. More videos from the 'Pimp your brain' serial are available on www.youtube.com/playlist?list=PL-l9VItC9Gn2Ur2Xj6PTOAkjLUlVPbIOO More videos are available on www.mpimp-golm.mpg.de

NGS teaching material

Jit — Wed, 05 Apr 2017 04:29:06 -0500

High throughput sequencing (HTS) technologies are being applied to a wide range of important topics in biology. However, the analyses of non-model organisms, for which little previous sequence information is available, pose specific problems. This course addresses the specific strengths and weaknesses of alternative HTS technologies, the computational resources needed for HTS, and how to analyze non-model species using HTS. The course consists of a practical training module, HTS bioinformatics training, and lecturing/seminars of HTS approaches specifically targeting non-model organisms.

Address of the bookmark: http://marinetics.org/teaching/hts/Assembly.html

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

Bioinformatics in Africa: Part 4 - Morocco

BioStar — Sat, 06 Feb 2021 13:31:24 -0600

Bioinformatics, in the UFR in Artificial Intelligence and Bioinformatics, deals with the management, the analysis, the modelling and the visualization of biological databases. Since the size of the databases is often exponential, the traditional algorithms are not very effective when seeking for a good computational solution.

To take care of this issue, many ways are opened to the researchers to improve the quality of the algorithms:

1. Usage of new information processing methods like artificial neuronal networks, genetic algorithms, etc. 2. Usage of Data mining to explore biochemical databases,
3. Usage of Machine learning on the biological examples to solve, for example, the problem of classification in Bioinformatics.

UFR offers in addition a doctoral training in Computer Science and Bioinformatics.

Doctoral module which includes: a Diplôme des Etudes Supérieures Approfondies (DESA) of two years; and a doctorate studies program with a national Ph.D. certification. Three specializations constitute the teaching trunk of the ENSAT: Computer engineering, Telecom engineering, and electronic systems engineering.

Research Interest and Activities:

The following are the present areas of research interest:

1. Machine Learning and Profile Gene Expression of Cancer
2. Predicting Protein structure
3. Hidden Markov Models (HMMs) and multiple alignments
4. Transformational Grammar for sequence modelling
5. Physical Mapping: STSs
6. Evolutionary Computation applied to Genomic and Proteomic
7. Predicate Logic and Protein Structure

Web site and links:

http://www.ensat.ac.ma/udiab http://www.pasteur.fr/pasteur/international/annonce_coursBioinfoannonce06_casa.pdf