BOL: Related items

Genome assembly forensics: finding the elusive mis-assembly

Jit — Sat, 26 Jan 2019 18:02:01 -0600

We present the first collection of tools aimed at automated genome assembly validation. This work formalizes several mechanisms for detecting mis-assemblies, and describes their implementation in our automated validation pipeline, called amosvalidate. We demonstrate the application of our pipeline in both bacterial and eukaryotic genome assemblies, and highlight several assembly errors in both draft and finished genomes. The software described is compatible with common assembly formats and is released, open-source, at http://amos.sourceforge.net.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2397507/

http://amos.sourceforge.net/wiki/index.php/AMOS

Address of the bookmark: http://amos.sourceforge.net/wiki/index.php/AMOS

MIRO : miRNA omics

Jit — Tue, 04 Oct 2016 14:50:48 -0500

The MIRO (the miRNA omics) pipeline is a flexible and powerful tool for the analysis of miRNA (or more generall short RNA) expression using short-read deep sequencing data. In its present implementation MIRO is especially adapted for the analysis of reads generated with the Illumina sequencing platform. MIRO allows to preprocess the Solexa-reads, map them flexibly to several reference genomes using one of four different mappers, create differential gene (miRNA) expression profiles and cluster reads using one of several algorithm. MIRO output is furthermore compatible with software such as genome browsers and miRDeep.

Address of the bookmark: http://seq.crg.es/download/software/Miro/

Entrez Direct: E-utilities on the UNIX Command Line

Anjana — Wed, 19 Oct 2016 08:06:24 -0500

Entrez Direct (EDirect) is an advanced method for accessing the NCBI's suite of interconnected databases (publication, sequence, structure, gene, variation, expression, etc.) from a UNIX terminal window. Functions take search terms from command-line arguments. Individual operations are combined to build multi-step queries. Record retrieval and formatting normally complete the process.

EDirect also provides an argument-driven function that simplifies the extraction of data from document summaries or other results that are returned in structured XML format. This can eliminate the need for writing custom software to answer ad hoc questions. Queries can move seamlessly between EDirect commands and UNIX utilities or scripts to perform actions that cannot be accomplished entirely within Entrez.

Address of the bookmark: https://www.ncbi.nlm.nih.gov/books/NBK179288/

StringTie Transcript assembly and quantification for RNA-Seq

Jit — Tue, 09 Jun 2020 05:21:11 -0500

StringTie is a fast and highly efficient assembler of RNA-Seq alignments into potential transcripts. It uses a novel network flow algorithm as well as an optional de novo assembly step to assemble and quantitate full-length transcripts representing multiple splice variants for each gene locus. Its input can include not only alignments of short reads that can also be used by other transcript assemblers, but also alignments of longer sequences that have been assembled from those reads. In order to identify differentially expressed genes between experiments, StringTie's output can be processed by specialized software like Ballgown, Cuffdiff or other programs (DESeq2, edgeR, etc.).

Address of the bookmark: https://ccb.jhu.edu/software/stringtie/

3D de novo assembly (3D DNA) pipeline

Jit — Sun, 02 Feb 2020 13:41:55 -0600

For a detailed description of the pipeline and how it integrates with other tools designed by the Aiden Lab see Genome Assembly Cookbook on http://aidenlab.org/assembly.

For the original version of the pipeline and to reproduce the Hs2-HiC and the AaegL4 genomes reported in (Dudchenko et al., Science, 2017) see the original commit.

For the detailed description of the merge section see https://github.com/theaidenlab/AGWG-merge.

Address of the bookmark: https://github.com/theaidenlab/3d-dna

PLINK2

Jit — Thu, 27 Oct 2016 11:24:45 -0500

This is a comprehensive update to Shaun Purcell's PLINK command-line program, developed by Christopher Chang with support from the NIH-NIDDK's Laboratory of Biological Modeling, the Purcell Lab at Mount Sinai School of Medicine, and others. (What's new?) (Credits.) (Methods paper.)

Address of the bookmark: https://www.cog-genomics.org/plink2/

BlobToolKit: A toolkit for genome assembly QC

Jit — Fri, 21 Feb 2020 00:17:50 -0600

Filtering raw genomic datasets is essential to avoid chimeric assemblies and to increase the validity of sequence-based biological inference. BlobToolKit extends the BlobTools1/Blobology2 approach to simplify interactive and reproducible filtering.

BlobToolKit is comprised of four components:

BlobToolKit Viewer allows browser-based interactive visualisation and filtering of preliminary or published genomic datasets even for highly fragmented assemblies.
BlobTools2 is a command-line program to convert assemblies and analysis results into datasets that can be further processed using BlobTools2 and/or visualised in the Viewer.
The BlobToolKit Specification features a formal schema and validator for the JSON-based BlobDir format used by BlobTools2 and the Viewer.
The BlobToolKit Pipeline is a configurable Snakemake pipeline that automates all steps from retrieving public datasets through running analyses and generating a BlobDir dataset with BlobTools2, ready for visualisation in the Viewer.

Paper https://www.biorxiv.org/content/10.1101/844852v1.full.pdf

Address of the bookmark: https://blobtoolkit.genomehubs.org/

HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads

BioStar — Fri, 27 Mar 2020 22:49:31 -0500

HiCanu, a significant modification of the Canu assembler designed to leverage the full potential of HiFi reads via homopolymer compression, overlap-based error correction, and aggressive false overlap filtering.

More at https://www.biorxiv.org/content/10.1101/2020.03.14.992248v3

Address of the bookmark: https://github.com/marbl/canu

Information Officer at IIAR, Gujarat

Fri, 04 Nov 2016 05:19:13 -0500

Walk in interview at 10.30 am on Nov 11th, 2016 for the following position at Distributed Information Sub-Centre (DISC) established by Dept. Of Biotechnology, Govt. of India at Indian Institute of Advanced Research, Gandhinagar, Gujarat

Position (scale), qualifications and experience

1. Information Officer (Rs 8000-275-13500): one post
Qualifications and experience: MCA, Post-Graduate in any field of biosciences, bioinformatics with at least two years of experience in working in a bioinformatics setup and good knowledge of linux operating system and computer networking.

General terms and conditions:
1. The above engagements is presently till March 31st, 2017. However on extension of project grant and satisfactory performance of the candidate, your services can be extended beyond March 31st, 2017 based on the terms and conditions of extension of project grant.

2. It is not an appointment with the institute and will not confer any right to the incumbent to any claim implicit or explicit on any position.

3.No TA/DA will be paid for attending the interview. Outstation candidates have to make their own arrangement for their stay.

4.Candidates, appearing in the walk-in interview are requested to bring the hard copy of application addressed to Dr. Anju Pappachan with latest photograph, CV mentioning qualifications, work experience and name of two referees and one page write up as to why you would like to join the project.

Address:
Dr. Anju Pappachan
Indian Institute of Advanced Research (IIAR),
University and Institute of Advanced Research,
The Puri Foundation for Education in India,
Koba Institutional Area,
Gandhinagar- 382 007, Gujarat, India. Contact no. 079-30514152
e-mail- anju@iiar.res.in

Supernova: generates phased, whole-genome de novo assemblies from a Chromium-prepared library.

Jit — Sun, 31 May 2020 01:59:30 -0500

Supernova generates phased, whole-genome de novo assemblies from a Chromium-prepared library.

Please see Achieving Success with De Novo Assembly and System Requirements before creating your Chromium libraries for assembly.

Supernova should be run using 38-56x coverage of the genome.
• Somewhat higher coverage is sometimes advantageous.
• Supernova will exit if it finds that coverage is far from the recommended range.
• Note that at most 2.14 billion reads are allowed.
• Please note that we have not extensively tested genomes larger than human, and any genome above approximately 4 GB should be considered experimental and is not supported.

Address of the bookmark: https://support.10xgenomics.com/de-novo-assembly/software/pipelines/latest/using/running