BOL: Related items

PRISM

Jit — Sat, 10 Dec 2016 15:19:40 -0600

PRISM is a software for split read (reads which span across a structrual variant -- SV ) mapping and SV calling from the mapping result. PRISM is able to detect small insertions and abitrary size deletions, inversions and tandom duplications with the direction of discordant read pairs. PRISM_CTX is a tool for detecting inter-chromosome trans-location events.

PRISM and PRISM_CTX were originally designed and written by Michael Brudno and Yue Jiang, The original PRISM publication can be found here.

The authors may be contacted via e-mail at: prism at cs.toronto.edu.

Additional information is available in the PRISM README file and PRISM_CTX README file.

http://compbio.cs.toronto.edu/prism/

Address of the bookmark: http://compbio.cs.toronto.edu/prism/

pyScaf

Bulbul — Mon, 19 Dec 2016 14:20:33 -0600

pyScaf orders contigs from genome assemblies utilising several types of information:

paired-end (PE) and/or mate-pair libraries (NGS-based mode)
long reads (NGS-based mode)
synteny to the genome of some related species (reference-based mode)

Scaffolding

In reference-based mode, pyScaf uses synteny to the genome of closely related species in order to order contigs and estimate distances between adjacent contigs.

Contigs are aligned globally (end-to-end) onto reference chromosomes, ignoring:

matches not satisfying cut-offs (--identity and --overlap)
suboptimal matches (only best match of each query to reference is kept)
and removing overlapping matches on reference.

In preliminary tests, pyScaf performed superbly on simulated heterozygous genomes based on C. parapsilosis (13 Mb; CANPA) and A. thaliana (119 Mb; ARATH) chromosomes, reconstructing correctly all chromosomes always for CANPA and nearly always for ARATH (Figures in dropbox, CANPA table, ARATH table).
Runs took ~0.5 min for CANPA on 4 CPUs and ~2 min for ARATH on 16 CPUs.

Important remarks:

Reduce your assembly before (fasta2homozygous.py) as any redundancy will likely break the synteny.
pyScaf works better with contigs than scaffolds, as scaffolds are often affected by mis-assemblies (no de novo assembler / scaffolder is perfect...), which breaks synteny.
pyScaf works very well if divergence between reference genome and assembled contigs is below 20% at nucleotide level.
pyScaf deals with large rearrangements ie. deletions, insertion, inversions, translocations. Note however, this is experimental implementation!
Consider closing gaps after scaffolding.

Address of the bookmark: https://github.com/lpryszcz/pyScaf

fineSTRUCTURE v2 & GLOBETROTTER

Shruti Paniwala — Mon, 13 Feb 2017 08:40:23 -0600

Software available at this site

FineSTRUCTURE version 2, a pipeline for running ChromoPainter and FineSTRUCTURE for population inference. A GUI is available for interpretation. Download from the Downloads page.
FineSTRUCTURE R scripts, a facility for exploring the results when the GUI is unavailable.
GLOBETROTTER, the admixture dating method based on ChromoPainter. Download from the Downloads page.
AdmixturePainting, A set of R tools to inmterpret the results of ADMIXTURE and STRUCTURE-like mixture models.
RADpainter, finestructure and ChromoPainter for RAD tag data used for non-model organisms.
Scripts to perform many types of conversion. Included in the main software download from the Downloads page.

What this page is This page provides information about and downloads for methodology for Chromosome Painting. It is not a facility to analyse your genome. Sorry if you were misled by the punchy name!
About Chromosome Painting Painting is an efficient way of identifying important haplotype information from dense genotype data. It describes ancestry in an efficient way suitable for a range of further analyses, including population identification and admixture dating.

Address of the bookmark: http://paintmychromosomes.com/

GenomeComp

Jit — Fri, 17 Feb 2017 08:38:32 -0600

GenomeComp is a tool for summarizing, parsing and visualizing the genome wide sequence comparison results derived from voluminous BLAST textual output, so as to locate the rearrangements, insertions or deletions of genome segments between species or strains.

It can be easily used to compare, parsing and visualize large genomic sequences, especially closely related genomes such as inter-species or inter-strains. In addition, it can also show other sequence features like repeat sequence distributions in one whole-genome DNA sequence by comparing the genome to itself.

It is a stand-alone graphical user interface (GUI) program which runs on Linux, Unix, Mac OS X (tested on version 10.2.4 only) and Microsoft Windows platforms and is written in Perl/Tk.

Address of the bookmark: http://www.mgc.ac.cn/GenomeComp/

Linux Cheat Sheet

Jitendra Narayan — Tue, 09 Jul 2013 17:30:04 -0500

In an attempt to find a good Linux reference for bioinformatician and BOL readers, I was unsuccessful at finding a decent one on the Internet. So, we decided to make a cheat sheet for biological programmers.

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/

Bioinformatics: Introduction to PERL

Archana Malhotra — Thu, 11 Jul 2013 09:49:37 -0500

This course is aimed at those new to programming and provides an introduction to programming using Perl. By the end of this course, attendees should be able to write simple Perl programs and to understand more complex Perl programs written by others. The course will be taught using the online Learning Perl materials created by Sofia Robb of the University of California Riverside. Further information is available.

HTSlib

Jit — Wed, 15 Mar 2017 11:38:05 -0500

Samtools is a suite of programs for interacting with high-throughput sequencing data. It consists of three separate repositories:

Samtools: Reading/writing/editing/indexing/viewing SAM/BAM/CRAM format
BCFtools: Reading/writing BCF2/VCF/gVCF files and calling/filtering/summarising SNP and short indel sequence variants
HTSlib: A C library for reading/writing high-throughput sequencing data

Samtools and BCFtools both use HTSlib internally, but these source packages contain their own copies of htslib so they can be built independently.

Address of the bookmark: http://www.htslib.org/

NGS & Bioinformatics Summit Europe

Sat, 13 Jul 2013 17:02:34 -0500

NGS & Bioinformatics Summit Europe

Conference

7th to 8th October 2013
Berlin, Germany

Website: https://www.gtcbio.com/conference/ngseurope-overview
Contact person: Kristen Starkey

We welcome you to join us at GTC’s NGS & Bioinformatics Summit Europe on October 7-8, 2013 in Berlin, Germany.

Organized by: GTC
Deadline for abstracts/proposals: 7th September 2013

gbtools: Interactive Visualization of Metagenome Bins in R

Jit — Sun, 26 Mar 2017 15:41:31 -0500

We have developed gbtools, a software package that allows users to visualize metagenomic assemblies by plotting coverage (sequencing depth) and GC values of contigs, and also to annotate the plots with taxonomic information. Different sets of annotations, including taxonomic assignments from conserved marker genes or SSU rRNA genes, can be imported simultaneously; users can choose which annotations to plot. Bins can be manually defined from plots, or be imported from third-party binning tools and overlaid onto plots, such that results from different methods can be compared side-by-side. gbtools reports summary statistics of bins including marker gene completeness, and allows the user to add or subtract bins with each other.

Tool at https://github.com/kbseah/genome-bin-tools

Address of the bookmark: http://journal.frontiersin.org/article/10.3389/fmicb.2015.01451/full