BOL: All site bookmarks

Flye: Fast and accurate de novo assembler for single molecule sequencing reads

Rahul Nayak — Sat, 06 Jul 2019 03:48:22 -0500

Flye is a de novo assembler for single molecule sequencing reads, such as those produced by PacBio and Oxford Nanopore Technologies. It is designed for a wide range of datasets, from small bacterial projects to large mammalian-scale assemblies. The package represents a complete pipeline: it takes raw PB / ONT reads as input and outputs polished contigs. Flye also includes a special mode for metagenome assembly.

Address of the bookmark: https://github.com/fenderglass/Flye

FLAS: fast and high throughput algorithm for PacBio long read self-correction.

Jit — Sat, 22 Jun 2019 12:16:39 -0500

FLAS, a wrapper algorithm of MECAT, to achieve high throughput long read self-correction while keeping MECAT's fast speed. FLAS finds additional alignments from MECAT prealigned long reads to improve the correction throughput, and removes misalignments for accuracy.

Address of the bookmark: https://github.com/baoe/flas

VESPA: Very large-scale Evolutionary and Selective Pressure Analyses

Jit — Sat, 22 Jun 2019 03:07:04 -0500

find the resources we provide here useful in getting you set up to analyse and interpret your data.

To reference VESPA: https://peerj.com/preprints/1895/

Documentation is now hosted on ReadTheDocs

Address of the bookmark: https://github.com/aewebb80/VESPA

gEVAL: Genome Evaluation Browser

Jit — Tue, 18 Jun 2019 05:39:08 -0500

The gEVAL Browser allows the evaluation of genome assemblies through its tools and pre-computed analyses.

The strength of this browser is the ability to navigate an up to date assembly and identify problematic regions and assist in strategizing potential solutions for these issues.

This facilitates the improvement of overall assemblies to a “gold” standard for release as reference genomes

Address of the bookmark: https://geval.sanger.ac.uk/index.html

Cogent: a tool for reconstructing the coding genome using high-quality full-length transcriptome sequences.

Jit — Tue, 18 Jun 2019 05:33:04 -0500

Cogent is a tool that identifies gene families and reconstructs the coding genome using high-quality transcriptome data without a reference genome, and can be used to check assemblies for the presence of these known coding sequences.

Cogent is a tool for reconstructing the coding genome using high-quality full-length transcriptome sequences. It is designed to be used on Iso-Seq data and in cases where there is no reference genome or the ref genome is highly incomplete.

See a recent presentation on Cogent being applied to the Cuttlefish Iso-Seq data.

Cogent preliminary draft paper (updated 2016Dec version), Supplementary

Please see wiki for details on usage.

Address of the bookmark: https://github.com/Magdoll/Cogent

FUMA GWAS: Functional Mapping and Annotation of Genome-Wide Association Studies

Jit — Sat, 01 Jun 2019 03:11:16 -0500

FUMA is a platform that can be used to annotate, prioritize, visualize and interpret GWAS results.
The SNP2GENE function takes GWAS summary statistics as an input, and provides extensive functional annotation for all SNPs in genomic areas identified by lead SNPs.
The GENE2FUNC function takes a list of gene IDs (as identified by SNP2GENE or as provided manually) and annotates genes in biological context

Address of the bookmark: https://fuma.ctglab.nl/

Apollo: First instantaneous, collaborative genomic annotation editor available on the Web

Jit — Fri, 31 May 2019 19:55:39 -0500

Apollo is a plug-in for the JBrowse Genome Viewer.
In addition to genes and pseudogenes, users can annotate ncRNAs (snRNA, snoRNA, tRNA, rRNA), miRNAs, repeat regions, and transposable elements; each annotation type has its own configuration of the ‘Information Editor’.
History tracking with undo/redo functions is available.
Users are able to directly set an annotation to a specific state, choosing from the ‘History’ display.
Adding and updating PubMed IDs will prompt users with a publication title to confirm their submission.
Gene Ontology (GO) terms are supported and GO ID auto-completion has been incorporated.
Users may access a ‘Recent Changes’ page.
Help page with Apollo specific content is available.

Address of the bookmark: http://genomearchitect.github.io/

snakepipes: A toolkit based on snakemake and python for analysis of NGS data

Jit — Thu, 30 May 2019 04:06:13 -0500

snakePipes are flexible and powerful workflows built using snakemake that simplify the analysis of NGS data.

DNA-mapping*
ChIP-seq*
RNA-seq*
ATAC-seq*
scRNA-seq
Hi-C
Whole Genome Bisulfite Seq/WGBS

(*Also available in "allele-specific" mode)

snakePipes can be installed via conda :

'conda install -c mpi-ie -c bioconda -c conda-forge snakePipes'.

Source code (https://github.com/maxplanck-ie/snakepipes) and documentation (https://snakepipes.readthedocs.io/en/latest/) are available online.

Address of the bookmark: https://github.com/maxplanck-ie/snakepipes

geck: trio-based comparative benchmarking of variant calls

Jit — Sun, 19 May 2019 20:54:12 -0500

Determine the accuracy of our model by comparing the precision and recall of GATK Unified Genotyper and Haplotype Caller on the high-confidence SNPs of the NIST Ashkenazim trio and the two independent Platinum Genome trios. We show that our method is able to estimate differential precision and recall between the two pipelines with 10−3uncertainty.

Address of the bookmark: https://github.com/sbg/geck

MGERT: Mobile Genetic Elements Retrieving Tool

Neel — Sat, 18 May 2019 08:58:01 -0500

MGERT is a computational pipeline for easy retrieving of MGE's coding sequences of a particular family from genome assemblies. MGERT utilizes several established bioinformatic tools combined into single pipeline which hides different technical quirks from an inexperienced user.

Address of the bookmark: https://github.com/andrewgull/MGERT