<![CDATA[BOL: Related items]]> https://bioinformaticsonline.com/related/44675?offset=80 https://bioinformaticsonline.com/bookmarks/view/39236/causel-an-epigenome-and-genome-editing-pipeline-for-establishing-function-of-noncoding-gwas-variants Tue, 09 Apr 2019 07:23:37 -0500 https://bioinformaticsonline.com/bookmarks/view/39236/causel-an-epigenome-and-genome-editing-pipeline-for-establishing-function-of-noncoding-gwas-variants <![CDATA[CAUSEL: an epigenome- and genome-editing pipeline for establishing function of noncoding GWAS variants]]> Validated a widely accessible approach that can be used to establish functional causality for noncoding sequence variants identified by GWASs.

https://www.nature.com/articles/nm.3975

Address of the bookmark: https://www.nature.com/articles/nm.3975

]]> BioJoker https://bioinformaticsonline.com/bookmarks/view/40409/haplotypo-a-variant-calling-pipeline-for-phased-genomes Thu, 19 Dec 2019 07:33:40 -0600 https://bioinformaticsonline.com/bookmarks/view/40409/haplotypo-a-variant-calling-pipeline-for-phased-genomes <![CDATA[HaploTypo: a variant-calling pipeline for phased genomes]]> An increasing number of phased (i.e. with resolved haplotypes) reference genomes are available. However, most genetic variant calling tools do not explicitly account for haplotype structure. Here, we present HaploTypo, a pipeline tailored to resolve haplotypes in genetic variation analyses. HaploTypo infers the haplotype correspondence for each heterozygous variant called on a phased reference genome.

Availability and Implementation

HaploTypo is implemented in Python 2.7 and Python 3.5, and is freely available at https://github.com/gabaldonlab/haplotypo, and as a Docker image.

Address of the bookmark: https://github.com/gabaldonlab/haplotypo

]]> Jit https://bioinformaticsonline.com/bookmarks/view/41030/slr-superscaffolder-a-scaffold-assemble-pipeline-for-stlfr-reads Fri, 14 Feb 2020 14:23:30 -0600 https://bioinformaticsonline.com/bookmarks/view/41030/slr-superscaffolder-a-scaffold-assemble-pipeline-for-stlfr-reads <![CDATA[SLR-superscaffolder: A scaffold assemble pipeline for stLFR reads.]]> This is a scaffold assembler designed for stLFR reads[1]. It uses the link-reads information from stLFR reads to assemble contigs to scaffolds.

Here is an illustration of this pipeline:

 image

Address of the bookmark: https://github.com/BGI-Qingdao/SLR-superscaffolder

]]> Jit https://bioinformaticsonline.com/bookmarks/view/42038/pyparanoid-a-pipeline-for-rapid-identification-of-homologous-gene-families-in-a-set-of-genomes Thu, 13 Aug 2020 10:06:19 -0500 https://bioinformaticsonline.com/bookmarks/view/42038/pyparanoid-a-pipeline-for-rapid-identification-of-homologous-gene-families-in-a-set-of-genomes <![CDATA[PyParanoid: a pipeline for rapid identification of homologous gene families in a set of genomes]]> PyParanoid is a pipeline for rapid identification of homologous gene families in a set of genomes - a central task of any comparative genomics analysis. The "gold standard" for identifying homologs is to use reciprocal best hits (RBHs) which depends on performing a all-vs-all sequence comparison, usually using BLAST, to determine homology. However, these methods are computationally expensive, requiring O(n2) resources to identify RBHs. This is problematic, as the modern deluge of sequencing data means that comparative genomics analyses could be performed on datasets of thousands of strains.

Address of the bookmark: https://github.com/ryanmelnyk/PyParanoid

]]> BioStar https://bioinformaticsonline.com/bookmarks/view/42946/aligngraph2-similar-genome-assisted-reassembly-pipeline-for-pacbio-long-reads Sun, 14 Mar 2021 09:42:47 -0500 https://bioinformaticsonline.com/bookmarks/view/42946/aligngraph2-similar-genome-assisted-reassembly-pipeline-for-pacbio-long-reads <![CDATA[AlignGraph2: similar genome-assisted reassembly pipeline for PacBio long reads]]> AlignGraph2 is the second version of AlignGraph for PacBio long reads. It extends and refines contigs assembled from the long reads with a published genome similar to the sequencing genome.

More at https://academic.oup.com/bib/advance-article-abstract/doi/10.1093/bib/bbab022/6146772

Address of the bookmark: https://github.com/huangs001/AlignGraph2

]]> Rahul Nayak https://bioinformaticsonline.com/blog/view/43634/illumina-based-assembly-pipeline-steps Fri, 10 Dec 2021 06:22:54 -0600 https://bioinformaticsonline.com/blog/view/43634/illumina-based-assembly-pipeline-steps <![CDATA[Illumina based assembly pipeline steps !]]> Illumina
  1. Merge re-sequenced FastQ files (cat)
  2. Read QC (FastQC)
  3. Adapter trimming (fastp)
  4. Removal of host reads (Kraken 2; optional)
  5. Variant calling
    1. Read alignment (Bowtie 2)
    2. Sort and index alignments (SAMtools)
    3. Primer sequence removal (iVar; amplicon data only)
    4. Duplicate read marking (picard; optional)
    5. Alignment-level QC (picard, SAMtools)
    6. Genome-wide and amplicon coverage QC plots (mosdepth)
    7. Choice of multiple variant calling and consensus sequence generation routes (iVar variants and consensus; default for amplicon data || BCFTools, BEDTools; default for metagenomics data)
      • Variant annotation (SnpEff, SnpSift)
      • Consensus assessment report (QUAST)
      • Lineage analysis (Pangolin)
      • Clade assignment, mutation calling and sequence quality checks (Nextclade)
      • Individual variant screenshots with annotation tracks (ASCIIGenome)
    8. Intersect variants across callers (BCFTools)
  6. De novo assembly
    1. Primer trimming (Cutadapt; amplicon data only)
    2. Choice of multiple assembly tools (SPAdes || Unicycler || minia)
  7. Present QC and visualisation for raw read, alignment, assembly and variant calling results (MultiQC)
]]> Surabhi Chaudhary https://bioinformaticsonline.com/bookmarks/view/44561/bactopia-a-flexible-pipeline-for-complete-analysis-of-bacterial-genomes Sat, 08 Jun 2024 16:25:08 -0500 https://bioinformaticsonline.com/bookmarks/view/44561/bactopia-a-flexible-pipeline-for-complete-analysis-of-bacterial-genomes <![CDATA[Bactopia: a flexible pipeline for complete analysis of bacterial genomes]]> Bactopia is a flexible pipeline for complete analysis of bacterial genomes. The goal of Bactopia is process your data with a broad set of tools, so that you can get to the fun part of analyses quicker!

Bactopia was inspired by Staphopia, a workflow we (Tim Read and myself) released that is targeted towards Staphylococcus aureus genomes. Using what we learned from Staphopia and user feedback, Bactopia was developed from scratch with usability, portability, and speed in mind from the start.

Bactopia uses Nextflow to manage the workflow, allowing for support of many types of environments (e.g. cluster or cloud). Bactopia allows for the usage of many public datasets as well as your own datasets to further enhance the analysis of your sequencing. Bactopia only uses software packages available from Bioconda and Conda-Forge to make installation as simple as possible for all users.

To highlight the use of Bactopia and Bactopia Tools, we performed an analysis of 1,664 public Lactobacillus genomes, focusing on Lactobacillus crispatus, a species that is a common part of the human vaginal microbiome. The results from this analysis are published in mSystems under the title: Bactopia: a flexible pipeline for complete analysis of bacterial genomes

Bactopia Workflow

Address of the bookmark: https://bactopia.github.io/latest/

]]> Abhi https://bioinformaticsonline.com/file/view/989/bioinformatics-approach-to-boar-taint Wed, 17 Jul 2013 15:50:37 -0500 https://bioinformaticsonline.com/file/view/989/bioinformatics-approach-to-boar-taint <![CDATA[Bioinformatics approach to Boar Taint]]> Meat products obtained from intact male pigs often produce offensive smell or odour which is recognized as a complex genetic trait called boar taint.Androstenone and Skatole in the fat primarily cause boar taint. Metabolism of androstenone and sex steroids share a common pathway which makes removal of boar taint a very challenging task. Castration is a traditional solution to remove boar taint but it also results in bad quality of meat due to low level of steroids which is objectionable to many consumers. Detected functional variant(s) underlying boar taint compounds can be used as genetic markers in selection of male pigs with reduced boar taint levels. Resequencing of a total of 47 samples belong to Norwegian Landrace (NL) and Duroc (D) pigs with varied boar taint levels were done in Illumina HiSeq2000 to >10X average coverage. Short reads generated from these samples mapped to Sus Scrofa version 10.2 reference assembly using Bowtie2. Alignment file then used for calling SNPs and InDels inside previousy identified QTL regions on SSC5,13, and 7 with the aid of FreeBayes , a variant caller tool. A final list of SNPs was prepared after filtering SNPs on the basis of SNP quality, coverage of SNP allele, functional and structural annotation, and repeats, etc. Selected SNPs will be genotyped in sample population for validation and then used for constructing SNPs haplotypes in close linkage disequilibrium with QTLs and fine mapping of QTLs through association mapping of genotyped SNPs. 

 

]]> Rahul Agarwal https://bioinformaticsonline.com/bookmarks/view/4208/latest-paper-on-comparison-of-mapping-tools Tue, 03 Sep 2013 18:00:38 -0500 https://bioinformaticsonline.com/bookmarks/view/4208/latest-paper-on-comparison-of-mapping-tools <![CDATA[Latest paper on comparison of mapping tools]]> A. Hatem, D. Bozdag, A. E. Toland, U. V. Catalyurek "Benchmarking short sequence mapping tools" BMC Bioinformatics, 14(1):184, 2013.

http://bmi.osu.edu/hpc/software/benchmark/

http://bmi.osu.edu/hpc/software/pmap/pmap.html

Other similiar papers:

http://online.liebertpub.com/doi/pdf/10.1089/cmb.2012.0022

http://bioinformatics.oxfordjournals.org/content/28/24/3169

Some new Mapping tool links:

GSNAP

http://research-pub.gene.com/gmap/

RMAP

http://rulai.cshl.edu/rmap/

mrsFAST

http://mrsfast.sourceforge.net/Home

http://sourceforge.net/projects/mrsfast/files/mrsfast-ultra-3.1.0/

BFAST

http://sourceforge.net/apps/mediawiki/bfast/index.php?title=Main_Page

SHRiMP (for AB SOLiD color-space reads)

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

RazerA 3

http://www.seqan.de/projects/razers/

Address of the bookmark: http://www.biomedcentral.com/1471-2105/14/184

]]> Rahul Agarwal https://bioinformaticsonline.com/bookmarks/view/31976/snpgenie Thu, 30 Mar 2017 17:38:02 -0500 https://bioinformaticsonline.com/bookmarks/view/31976/snpgenie <![CDATA[SNPGenie]]> SNPGenie is a Perl script for estimating evolutionary parameters, mainly from pooled next-generation sequencing (NGS) single-nucleotide polymorphism (SNP) variant data. SNP reports (acceptable in a variety of formats) much each correspond to a single population, with variants called relative to a single reference sequence (one sequence in one FASTA file). Just run the main script, snpgenie.pl, in a directory containing the necessary input files, and we take care of the rest! For the earlier version, see Hughes Lab Bioinformatics Resource.

Address of the bookmark: https://github.com/hugheslab/snpgenie

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