<![CDATA[BOL: Related items]]> https://bioinformaticsonline.com/related/37830? https://bioinformaticsonline.com/bookmarks/view/38829/nquire-a-statistical-framework-for-ploidy-estimation-using-ngs-short-read-data Thu, 31 Jan 2019 05:12:19 -0600 https://bioinformaticsonline.com/bookmarks/view/38829/nquire-a-statistical-framework-for-ploidy-estimation-using-ngs-short-read-data <![CDATA[nQuire: A statistical framework for ploidy estimation using NGS short-read data]]> nQuire implements a set of commands to estimate ploidy level of individuals from species, where recent polyploidization occurred and intraspecific ploidy variation is observed. Specifically, nQuire uses next-generation sequencing data to distinguish between diploids, triploids and tetraploids, on the basis of frequency distributions at variant sites where only two bases are segregating.

For more background see also the publication at BMC Bioinformatics.

https://github.com/clwgg/nQuire

Address of the bookmark: https://github.com/clwgg/nQuire

]]> Jit https://bioinformaticsonline.com/bookmarks/view/38169/amstat-display-statistics-of-large-sequence-files-from-next-generation-sequencing-projects Fri, 09 Nov 2018 13:34:56 -0600 https://bioinformaticsonline.com/bookmarks/view/38169/amstat-display-statistics-of-large-sequence-files-from-next-generation-sequencing-projects <![CDATA[AMStat: display statistics of large sequence files from next generation sequencing projects]]> SAMStat is an efficient C program to quickly display statistics of large sequence files from next generation sequencing projects. When applied to SAM/BAM files all statistics are reported for unmapped, poorly and accurately mapped reads separately. This allows for identification of a variety of problems, such as remaining linker and adaptor sequences, causing poor mapping. Apart from this SAMStat can be used to verify individual processing steps in large analysis pipelines.

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

]]> Neel https://bioinformaticsonline.com/bookmarks/view/42917/fings-filters-for-next-generation-sequencing Sat, 27 Feb 2021 01:18:35 -0600 https://bioinformaticsonline.com/bookmarks/view/42917/fings-filters-for-next-generation-sequencing <![CDATA[FiNGS: Filters for Next Generation Sequencing]]> Key features
  • Filters SNVs from any variant caller to remove false positives
  • Calculates metrics based on BAM files and provides filtering not possible with other tools
  • Fully user-configurable filtering (including which filters to use and their thresholds)
  • Option to use filters identical to ICGC recommendations

FiNGS provides researchers with a tool to reproducibly filter somatic variants that is simple to both deploy and use, with filters and thresholds that are fully configurable by the user. It ingests and emits standard variant call format (VCF) files and will slot into existing sequencing pipelines. It allows users to develop and implement their own filtering strategies and simple sharing of these with others.

FiNGS reliably improves upon the precision of default variant caller outputs and performs better than other tools designed for the same task.

Address of the bookmark: https://github.com/cpwardell/FiNGS

]]> Neel https://bioinformaticsonline.com/bookmarks/view/37674/qualimap2-evaluating-next-generation-sequencing-alignment-data Tue, 11 Sep 2018 04:44:29 -0500 https://bioinformaticsonline.com/bookmarks/view/37674/qualimap2-evaluating-next-generation-sequencing-alignment-data <![CDATA[Qualimap2: Evaluating next generation sequencing alignment data]]> Qualimap 2 is a platform-independent application written in Java and R that provides both a Graphical User Inteface (GUI) and a command-line interface to facilitate the quality control of alignment sequencing data and its derivatives like feature counts. 

Supported types of experiments include:

  • Whole-genome sequencing
  • Whole-exome sequencing
  • RNA-seq (speical mode available)
  • ChIP-seq

Address of the bookmark: http://qualimap.bioinfo.cipf.es/

]]> Jit https://bioinformaticsonline.com/bookmarks/view/40707/vt-a-variant-tool-set-that-discovers-short-variants-from-next-generation-sequencing-data Tue, 28 Jan 2020 03:44:43 -0600 https://bioinformaticsonline.com/bookmarks/view/40707/vt-a-variant-tool-set-that-discovers-short-variants-from-next-generation-sequencing-data <![CDATA[vt: a variant tool set that discovers short variants from Next Generation Sequencing data.]]> vt is a variant tool set that discovers short variants from Next Generation Sequencing data.

https://genome.sph.umich.edu/wiki/Vt

https://github.com/atks/vt

Address of the bookmark: https://genome.sph.umich.edu/wiki/Vt

]]> Jit https://bioinformaticsonline.com/bookmarks/view/41691/genobuntu-package-for-next-generation-sequencing-and-genome-assembly Mon, 18 May 2020 16:47:56 -0500 https://bioinformaticsonline.com/bookmarks/view/41691/genobuntu-package-for-next-generation-sequencing-and-genome-assembly <![CDATA[Genobuntu: Package for Next Generation Sequencing and Genome Assembly]]>

Genobuntu is a software package containing more than 70 software and packages oriented towards NGS. In its current version, Genobuntu supports pre assembly tools, genome assemblers as well as post assembly tools.

Commonly used biological software and example script files for different assembly pipelines have also been provided, where the example script files can be updated to suit one’s experimental needs. Genobuntu attempts to reduce the amount of time and energy needed to build software workstations and it can also act as a good teaching source for a class room setting.

Therefore, Genobuntu offers a well-tailored environment for both novices and experts working in the field of genome assembly.

Features

  • Velvet
  • MiB
  • SSAKE
  • EULER
  • VCAKE
  • ABySS
  • ALLPATHS
  • Celera
  • SHARCGS
  • Allpaths
  • IDBA
  • TAIPAN
  • Edena
  • SOAPdenovo
  • Maq
  • IDBA-UD
  • No. of Reads present in the Ref. Seq.
  • ART NGS Reads Simulator
  • HiTEC, FASTQC
  • Minimum Description Length
  • SOAPaligner
  • Sequencing Read Archive Toolkit

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

]]> BioStar https://bioinformaticsonline.com/bookmarks/view/42271/mcclintock-meta-pipeline-to-identify-transposable-element-insertions-using-next-generation-sequencing-data Tue, 27 Oct 2020 00:21:18 -0500 https://bioinformaticsonline.com/bookmarks/view/42271/mcclintock-meta-pipeline-to-identify-transposable-element-insertions-using-next-generation-sequencing-data <![CDATA[McClintock: Meta-pipeline to identify transposable element insertions using next generation sequencing data]]> an integrated bioinformatics pipeline for the detection of TE insertions in whole-genome shotgun data, called McClintock (https://github.com/bergmanlab/mcclintock), which automatically runs and standardizes output for multiple TE detection methods. We demonstrate the utility of McClintock by evaluating six TE detection methods using simulated and real genome data from the model microbial eukaryote, Saccharomyces cerevisiae. 

Address of the bookmark: https://github.com/bergmanlab/mcclintock

]]> BioStar https://bioinformaticsonline.com/bookmarks/view/37993/platypus-a-haplotype-based-variant-caller-for-next-generation-sequence-data Thu, 25 Oct 2018 06:14:55 -0500 https://bioinformaticsonline.com/bookmarks/view/37993/platypus-a-haplotype-based-variant-caller-for-next-generation-sequence-data <![CDATA[Platypus: A Haplotype-Based Variant Caller For Next Generation Sequence Data]]> Platypus is a tool designed for efficient and accurate variant-detection in high-throughput sequencing data. By using local realignment of reads and local assembly it achieves both high sensitivity and high specificity. Platypus can detect SNPs, MNPs, short indels, replacements and (using the assembly option) deletions up to several kb. It has been extensively tested on whole-genome, exon-capture, and targeted capture data, it has been run on very large datasets as part of the Thousand Genomes and WGS500 projects, and is being used in clinical sequencing trials in the Mainstreaming Cancer Genetics programme. 

Tutorial https://github.com/andyrimmer/Platypus/blob/master/misc/README.txt

Address of the bookmark: http://www.well.ox.ac.uk/platypus

]]> Shruti Paniwala https://bioinformaticsonline.com/videolist/watch/11249/how-to-sequence-the-human-genome-mark-j-kiel Fri, 30 May 2014 13:24:11 -0500 https://bioinformaticsonline.com/videolist/watch/11249/how-to-sequence-the-human-genome-mark-j-kiel <![CDATA[How to sequence the human genome - Mark J. Kiel]]> View full lesson: http://ed.ted.com/lessons/how-to-sequence-the-human-genome-mark-j-kiel Your genome, every human's genome, consists of a unique DNA sequence of A's, T's, C's and G's that tell your cells how to operate. Thanks to technological advances, scientists are now able to know the sequence of letters that makes up an individual genome relatively quickly and inexpensively. Mark J. Kiel takes an in-depth look at the science behind the sequence. Lesson by Mark J. Kiel, animation by Marc Christoforidis.]]> https://bioinformaticsonline.com/bookmarks/view/23174/scaffolding-of-a-bacterial-genome-using-minion-nanopore-sequencing Tue, 07 Jul 2015 16:59:25 -0500 https://bioinformaticsonline.com/bookmarks/view/23174/scaffolding-of-a-bacterial-genome-using-minion-nanopore-sequencing <![CDATA[Scaffolding of a bacterial genome using MinION nanopore sequencing]]> Second generation sequencing has revolutionized genomic studies. However, most genomes contain repeated DNA elements that are longer than the read lengths achievable with typical sequencers, so the genomic order of several generated contigs cannot be easily resolved. A new generation of sequencers offering substantially longer reads is emerging, notably the Pacific Biosciences (PacBio) RS II system and the MinION system, released in early 2014 by Oxford Nanopore Technologies through an early access program.

Address of the bookmark: http://www.nature.com/srep/2015/150707/srep11996/full/srep11996.html

]]> Rahul Agarwal