BOL: Related items

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

Yau Group

Tue, 15 Oct 2013 13:05:15 -0500

Yau Group are a new research group based at the Wellcome Trust Centre for Human Genetics and the Department of Statistics at the University of Oxford.

Yau Group develops statistical and computational methods for the analysis of genomic datasets with a particular interest in cancer sequencing applications and the use of Bayesian Statistics.

Yau Group are currently have projects in somatic mutation analysis of heterogeneous cancers, data fusion or integration techniques and single cell genomics.

More @ http://www.well.ox.ac.uk/~cyau/index.html

orthodotter: Synteny plots (oxford grid)

Jit — Wed, 09 Aug 2017 07:16:16 -0500

orthodotter -h
--------------------------------------------------------------------------------
orthodotter - Plot orthologous genes on an oxford grid.
       -f      : input file, containing orthologous genes, default is stdin
                       species chr-name start end species chr-name start end
       -toPlot  : give the x and y sets and the color separated by double-dots,
                       for example set1:set2:red will plot set1 on x, set2 on y with
                       red points. Could give several -toPlot arguments.
                       To launch the clustering of dots, use extra-option 1=dist,min_nb_genes
                       where dist is the minimal distance (euclidian) between two points and min_nb_genes the minimal
                       number of genes in a cluster to be valid.
       -o      : output file, default is stdout
       -x       : resolution of x axis, default is 600
       -y       : resolution on y axis, default is 600
       -r       : radius of circle representing orthologous genes
       -format       : could be png, gif, jpg, pdf or ps. Default is png.
       -fg           : foreground color, default is black
       -bg           : background color, default is transparent
       -fSize   : fontSize, default is 1
       -filter       : check chromosome names
       -h            : help
--------------------------------------------------------------------------------
orthodotter -f Vigne_Banane.ortho -toPlot Vigne:Banane:black:1=10,5 -x 1200 -y 1200 -bg white -o Vigne_vs_Banane.png > Vigne_vs_Banane.clusters
--------------------------------------------------------------------------------

Address of the bookmark: https://github.com/institut-de-genomique/orthodotter

Strand Life Sciences announces the release of Strand NGS v3.1 at ASHG 2017

Yeshodari — Mon, 23 Oct 2017 02:36:05 -0500

Strand Life Sciences announces the release of Strand NGS v3.1 at ASHG 2017

ORLANDO, USA, Oct 17, 2017/ PRNewswire/

Strand NGS now supports large scale RNA- and small-RNA-Seq and Unique Molecular Identifiers (UMIs) for DNA-, RNA-, and small-RNA-Seq.

Strand Life Sciences announced the latest version release of its bioinformatics flagship product, Strand NGS, at the Annual Meeting of the American Society of Human Genetics today. Two major themes in Strand NGS v3.1 address recent challenges in next generation sequencing (NGS).

The first theme is large-scale RNA-Seq data analysis. Current cross-cohort RNA- and small-RNA-Seq studies span tens of replicates and batches across hundreds of samples, sometimes conducted across several different institutions. For such studies, Strand NGS v3.1 includes confounding variable analysis to eliminate technical effects, including batch effects; the t-SNE plot; profile and heat-map plots of gene-body coverage; and several other notable visual enhancements.

The second new feature is support for Unique Molecular Identifiers, or UMIs, for DNA-, RNA- and small-RNA-Seq. UMI support in Strand NGS is end-to-end, spanning alignment to variant calling in DNA-Seq, and alignment to quantification in RNA- and small-RNA-Seq. The Bioo Scientific, Qiagen, and Rubicon UMI protocols are natively supported, and an intuitive interface allows the specification of custom UMI protocols.

“For liquid biopsies and low-grade FFPE samples, UMI support in DNA-Seq enables the detection of somatic variants at low concentrations. In RNA-Seq, large-scale and UMI support can be used in single-cell-based studies that reveal tumor-cell heterogeneity, even at low concentrations”, says Dr. Vamsi Veeramachaneni, Chief Scientific Officer, Strand Life Sciences.

“At Strand, we are continuously working towards improving the accuracy and efficiency of NGS data analysis. Customers can look forward to Strand NGS becoming available on the cloud in the near future”, says Dr. Ramesh Hariharan, Chief Executive Officer, Strand Life Sciences.

Visit Strand Life Sciences at ASHG booth #1017 to know more about Strand NGS v3.1 and other products and service offerings from Strand Life Sciences. Click here to access detailed agenda and v3.1 release notes.

About Strand Life Sciences

Strand Life Sciences is a premier life science informatics innovation company. Founded in 2000, Strand is a leader in technology innovations for healthcare using genomics. By enhancing sequence-based diagnostics and clinical genomic data interpretation using a strong foundation of computational, scientific, and medical expertise, Strand is bringing individualized medicine to the world. To know more, visit www.strandls.com

Address of the bookmark: http://www.strand-ngs.com/strand-announce-strandngss-v31

Calling narrow and broad peaks from ChIP-Seq data

Strand — Tue, 04 Aug 2015 05:06:03 -0500

Know about the state-of-the-art algorithms implemented in Strand NGS for detecting the binding sites of transcription factor (narrow peaks) and enriched regions of histone modification (broad peaks) from ChIP-Seq data.
Read the benchmarking study on Calling narrow and broad peaks from ChIP-Seq data in Strand NGS by Rohit Gupta and Anita Sathyanarayanan. For more information, please contact us

Webinar on Diagnosis of Rare Diseases using NGS Based Multi-gene Testing- Case studies by Dr.Aparna Ganapathy on 18 Apr 2018

Strand — Mon, 19 Mar 2018 04:40:58 -0500

A disease is considered to be ‘rare’ when it affects one in about 2000 individuals in the population. This, individually are although rare, collectively, the incidence could be very high causing a significant socio-economic burden. Arriving at a confirmatory diagnosis is a major challenge in these inherited disorders, which can significantly impact treatment and disease management. Conventional genetic testing for rare diseases focuses mostly on sequencing of fewer genes, followed by a deletion/duplica-tion analysis by multiplex ligation-dependent probe amplifi¬cation (MLPA). This sequential testing strategy is time consuming and very expensive. Multi-gene panel based on NGS (next-generation sequencing) can allow us to detect all types of mutations, including large deletions/duplications, thus allowing us to perform a comprehensive genetic testing in a cost-effective manner. Thus, with the advent of NGS technology, the possibility of offering a ‘single platform solution’ for all types of genetic defects can become a reality.

The webinar will highlight some of the interesting case studies wherein multi-gene testing with NGS was helpful in arriving at a confirmatory as well as differential diagnosis, even for complex clinical conditions. With robust bioinformatic analysis, we were able to detect few complex variations in few cases which a conventional test had missed. Some of those cases will also be discussed.

Session 1: 9 am CET, 18 Apr 2018
Session 2: 8 am CET, 18 Apr 2018
To attend, register here: http://www.strand-ngs.com/webinar_registration

About Speaker: Dr. Aparna Ganapathy is Senior scientist- Clinical Diagnostics at Strand Life Sciences. She has over 8 years of experience in human genetics and molecular biology. She received her Ph.D. in Human Molecular Genetics from Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore. At Strand Life Sciences, she is involved in the interpretation and clinical reporting of the genetic disorders. The focus of these genetic tests is to provide accurate and rapid clinical diagnosis for various inherited disorders.

MinION_GC: An R script to do some QC on MinION data

Radha Agarkar — Sun, 03 Dec 2017 15:19:18 -0600

Other tools focus on getting data out of the fastq or fast5 files, which is slow and computationally intensive. The benefit of this approach is that it works on a single, small, .txt summary file. So it's a lot quicker than most other things out there: it takes about a minute to analyse a 4GB flowcell on my laptop.

https://github.com/roblanf/minion_qc

Address of the bookmark: https://github.com/roblanf/minion_qc

The MARVEL assembler

Jit — Fri, 04 May 2018 19:18:41 -0500

MARVEL consists of a set of tools that facilitate the overlapping, patching, correction and assembly of noisy (not so noisy ones as well) long reads.

The assembly process can be summarized as follows:

overlap
patch reads
overlap (again)
scrubbing
assembly graph construction and touring
optional read correction
fasta file creation

Address of the bookmark: https://github.com/schloi/MARVEL

npScarf: real-time scaffolder using SPAdes contigs and Nanopore sequencing reads

Shruti Paniwala — Mon, 11 Jun 2018 05:14:57 -0500

npScarf (jsa.np.npscarf) is a program that connect contigs from a draft genomes to generate sequences that are closer to finish. These pipelines can run on a single laptop for microbial datasets. In real-time mode, it can be integrated with simple structural analyses such as gene ordering, plasmid forming.

Address of the bookmark: http://japsa.readthedocs.io/en/latest/tools/jsa.np.npscarf.html

poRe: an R package for the visualization and analysis of nanopore sequencing data

Jit — Thu, 23 Nov 2017 09:55:57 -0600

Motivation: The Oxford Nanopore MinION device represents a unique sequencing technology. As a mobile sequencing device powered by the USB port of a laptop, the MinION has huge potential applications. To enable these applications, the bioinformatics community will need to design and build a suite of tools specifically for MinION data.

Results: Here we present poRe, a package for R that enables users to manipulate, organize, summarize and visualize MinION nanopore sequencing data. As a package for R, poRe has been tested on Windows, Linux and MacOSX. Crucially, the Windows version allows users to analyse MinION data on the Windows laptop attached to the device.

Availability and implementation: poRe is released as a package for R at http://sourceforge.net/projects/rpore/ . A tutorial and further information are available at https://sourceforge.net/p/rpore/wiki/Home/

Contact:mick.watson@roslin.ed.ac.uk

Address of the bookmark: https://academic.oup.com/bioinformatics/article/31/1/114/2365693