BOL: Related items

SeqMule: Automated human exome/genome variants detection

Abhimanyu Singh — Tue, 07 Mar 2017 10:12:36 -0600

SeqMule takes single-end or paird-end FASTQ or BAM files, generates a script consisting of more than 10 popular alignment, analysis tools and runs the script line by line. Users can change the pipeline or fine-tune the parameters by modifying its configuration file. SeqMule also has some built-in functions, such as pooling consensus calls from various callers, plotting a Venn diagram showing intersection among different callers, and downloading databases. SeqMule can be used for both Mendelian disease study and cancer genome study.

Address of the bookmark: http://seqmule.openbioinformatics.org/en/latest/

GMOL: An Interactive Tool for 3D Genome Structure Visualization

Jit — Wed, 21 Mar 2018 12:25:20 -0500

GMOL was developed based upon our multi-scale approach that allows a user to scale between six separate levels within the genome. With GMOL, a user can choose any unit at any scale and scale it up or down to visualize its structure and retrieve corresponding genome sequences.

Address of the bookmark: https://www.nature.com/articles/srep20802

The Rogers Lab

Mon, 15 Jul 2019 08:07:44 -0500

The Rogers lab studies evolution of genome structure. We explore the ways that complex mutations like duplications, deletions, rearrangements, and retrogenes can create new genetic material. We study how these new mutations are important for adaptation. We are currently working on projects in Drosophila, Mammoths, Elephants, Bivalves, and Frogs absolutely no amphibians. This multi-organism approach can help us understand when and why complex mutations are important for organism fitness.

More at http://evolscientist.com/

GenomeQC: a quality assessment tool for genome assemblies and gene structure annotations

Neel — Thu, 19 May 2022 04:29:05 -0500

The GenomeQC web application is implemented in R/Shiny version 1.5.9 and Python 3.6 and is freely available at https://genomeqc.maizegdb.org/ under the GPL license. All source code and a containerized version of the GenomeQC pipeline is available in the GitHub repository https://github.com/HuffordLab/GenomeQC.

https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-020-6568-2

Address of the bookmark: https://github.com/HuffordLab/GenomeQC

BamView: a free interactive display of read alignments in BAM data files

Neel — Fri, 09 Nov 2018 13:43:22 -0600

To run the application on UNIX from the downloaded jar file run the UNIX:

java -mx512m -jar BamView.jar

and extra command line options are given when '-h' is used:

java -jar BamView.jar -h

BAM files can be specified on the command line with the '-a' option:

java -mx512m -jar BamView.jar -a pathToFile/sorted.bam

If a BAM filename is not given on the command line BamView will prompt for a file to be entered. The BAM index file should have the same name as the BAM file but with a '.bai' suffix. Multiple BAM files can be loaded and overlaid in the viewer. To make this easier BamView will read in files that contain a list of filenames.

Address of the bookmark: http://bamview.sourceforge.net/

Workshop on population and metagenomics analysis @ NERC

Sun, 01 Dec 2013 14:25:45 -0600

Workshop Overview

A ten-day workshop taking place between 25 February - 6 March 2014 providing detailed hands-on training for population and meta-genomics analysis for researchers with little or no background in mathematics or computing.

Venue: Dartington Hall, Totnes, Devon (nearest train station - Totnes)

Times: 25 February - 6th March 2014.

Arrival evening of Tuesday 25 February 2014. Departure morning of 6th March 2014. The course itself will take place 9am-12pm, 2pm-5pm and on some evenings 7pm-10pm everyday 26 February-5th March. Students are expected to attend the entire course.

Contact: research-events@exeter.ac.uk

Registration

The course itself is free of charged and is funded by a Professional Postgraduate Development Award from NERC.

A total of 30 funded places are available which cover the costs of accommodation and food, but not the cost of transportation to/from the venue.

An additional 10 places are available for participants from industry. The cost of accommodation and meals will need to be covered by the participants.

You should register your interest by 31 December 2013. Participants will be informed by 10th January 2014 as to whether they have been selected. Please note that preference will be given to researchers funded by NERC.

More at http://www.eventbrite.co.uk/e/nerc-workshop-on-population-and-metagenomics-analysis-tickets-8628888237

Katju Lab

Fri, 26 Feb 2016 03:25:32 -0600

TheLab seek to understand the genetic factors contributing to genomic variation and phenotypic diversity. To this end, we employ molecular and bioinformatic tools to study evolutionary processes at the level of populations, both experimental and natural, and genomes. Our research interests encompass a wide range of topics, including the evolution of organellar and nuclear genomes, gene duplication and the origin of novel function, and the fitness and phenotypic consequences of mutation in evolution. For details regards ongoing projects, please see the Research page.

http://katjulab.com/research.html

Przeworski lab

Mon, 15 Feb 2016 05:41:54 -0600

Genetic differences among individuals reflect the combined effects of mutation, recombination, population history and natural selection. As a result, studies of natural variation can provide important insights into evolutionary and genetic mechanisms: as examples, DNA sequence conservation among distantly related species can help identify functional roles too subtle to be detected in lab settings, while analyses of population variation allow for inferences about events that are too infrequent to be measured directly. Our research employs this general approach to learn about the dynamics of adaptation and the determinants of recombination and mutation, in humans and in other species.

More at http://przeworski.c2b2.columbia.edu/

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

AVID: A Global Alignment Program

Archana Malhotra — Wed, 24 May 2017 05:19:28 -0500

A new global alignment method called AVID. The method is designed to be fast, memory efficient, and practical for sequence alignments of large genomic regions up to megabases long. We present numerous applications of the method, ranging from the comparison of assemblies to alignment of large syntenic genomic regions and whole genome human/mouse alignments. We have also performed a quantitative comparison of AVID with other popular alignment tools. To this end, we have established a format for the representation of alignments and methods for their comparison. These formats and methods should be useful for future studies. The tools we have developed for the alignment comparisons, as well as the AVID program, are publicly available. See Web Site References section for AVID Web address and Web addresses for other programs discussed in this paper.

Address of the bookmark: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC430967/