BOL: Related items

MALVA: Genotyping by Mapping-free ALlele Detection of Known VAriants

Jit — Tue, 28 Jan 2020 03:39:22 -0600

MALVA is able to genotype multi-allelic SNPs and indels without mapping reads

MALVA calls correctly more indels than the most widely adopted genotyping pipelines

Mapping-free approaches are as accurate as alignment-based ones, while being faster

More at https://www.sciencedirect.com/science/article/pii/S2589004219302366

https://www.sciencedirect.com/science/article/pii/S2589004219302366

Address of the bookmark: https://github.com/AlgoLab/malva

The Genome 10K Project

Tue, 29 Jul 2014 09:11:04 -0500

https://genome10k.soe.ucsc.edu The Genome 10K project aims to assemble a genomic zoo—a collection of DNA sequences representing the genomes of 10,000 vertebrate species, approximately one for every vertebrate genus. The trajectory of cost reduction in DNA sequencing suggests that this project will be feasible within a few years. Capturing the genetic diversity of vertebrate species would create an unprecedented resource for the life sciences and for worldwide conservation efforts. The growing Genome 10K Community of Scientists (G10KCOS), made up of leading scientists representing major zoos, museums, research centers, and universities around the world, is dedicated to coordinating efforts in tissue specimen collection that will lay the groundwork for a large-scale sequencing and analysis project.

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

truvari: Structural variant comparison tool for VCFs

Jit — Tue, 30 Jun 2020 21:30:44 -0500

Structural variant comparison tool for VCFs

Given benchmark and comparsion sets of SVs, calculate the recall, precision, and f-measure.

Spiral Genetics

Motivation

Address of the bookmark: https://github.com/spiralgenetics/truvari

CLgenomics

Radha Agarkar — Fri, 03 Mar 2017 09:57:28 -0600

CLgenomics is a standalone desktop software specifically designed for bacterial genome analysis. This program has a powerful multi-genome browser, which enables rapid and responsive exploration of bacterial genomes.

To use CLgenomics, individual genome data (genome sequences + annotation details) are compiled and saved in a specially formatted file called CLG (ChunLab Genomics). Each CLG file corresponds with one bacterial genome. If multiple genomes are being considered and compared, multiple CLG files are needed. ChunLab offers >40,000 CLG files of publicly available Bacterial and Archaeal genomes.

Address of the bookmark: https://chunlab.wordpress.com/clgenomics-software/

KEGG Mapper – Reconstruct Pathway

Abhimanyu Singh — Wed, 12 Dec 2018 09:14:29 -0600

Reconstruct Pathway is a KEGG PATHWAY mapping tool that assists genome and metagenome annotations. The input data is a single gene list (for a single organism) or multiple gene lists (for multiple organisms) annotated with KEGG Orthology (KO) identifiers or K numbers. Each line of the gene list contains the user-defined gene identifier followed by, if any, the assigned K number. The mapping is performed through the K numbers against the KEGG reference pathways.

Address of the bookmark: https://www.kegg.jp/kegg/tool/map_pathway.html

Proksee

LEGE — Wed, 27 Mar 2024 11:11:54 -0500

Proksee is an expert system for genome assembly, annotation and visualization. To begin using Proksee, provide a complete genome sequence, sequencing reads or a CGView/Proksee map JSON file.

Please Cite the Following

Grant JR, Enns E, Marinier E, Mandal A, Herman EK, Chen C, Graham M, Van Domselaar G, and Stothard P

Proksee: in-depth characterization and visualization of bacterial genomes

Nucleic Acids Research, 2023, gkad326, https://doi.org/10.1093/nar/gkad326

Address of the bookmark: https://proksee.ca/

Zombies like bacteria!!!

Rahul Agarwal — Tue, 03 Sep 2013 08:44:15 -0500

Do you believe in Zombies stories … Hmm confused? Don’t worry there is a news for you. Scientists from the Integrated Ocean Drilling Program have announced the findings of the long-lived bacteria, reproducing only once every 10,000 years, which have been found in rocks 2.5km (1.5 miles) below the ocean floor that are as much as 100 million years old.

" the microbes exist in very low concentrations, of around 1,000 microbes in every tea spoon full of rock, compared with billions or trillions of bacteria that would typically be found in the same amount of soil at Earth's surface."

Reference:

http://www.bbc.co.uk/news/science-environment-23855436

BakRep (Denglish blend of Bakterien & Repository) simplifies access to this data

Neel — Wed, 13 Aug 2025 02:31:28 -0500

2,438,386 bacterial genomes at your fingertips consistently processed & characterized, enriched with metadata, accessible via a flexible search engine.

BakRep (Denglish blend of Bakterien & Repository) simplifies access to this data. It integrates enriched genomic information with metadata accessible via a flexible search-engine.

Key features

Assembly statistics: ensure data quality with genome-based key metrics
Taxonomic classification: robust, purely genome-based classifications (GTDB)
MLST: subtyping for deeper insights into genetic variation
Annotation: comprehensive & taxonomy-independent (Bakta)
Metadata: full original submission records

Address of the bookmark: https://bakrep.computational.bio/

Many-Core Engine (MCE) for Perl example

Jit — Tue, 31 Jan 2017 05:37:50 -0600

MCE spawns a pool of workers and therefore does not fork a new process per each element of data. Instead, MCE follows a bank queuing model. Imagine the line being the data and bank-tellers the parallel workers. MCE enhances that model by adding the ability to chunk the next n elements from the input stream to the next available worker.

CORE MODULES

Three modules make up the core engine for MCE.

MCE::Core: Provides the Core API for Many-Core Engine. The various MCE options are described here.
MCE::Signal: Temporary directory creation, cleanup, and signal handling.
MCE::Util: Utility functions for Many-Core Engine.

MCE EXTRAS

There are 4 add-on modules for use with MCE.

MCE::Candy: Provides a collection of sugar methods and output iterators for preserving output order.
MCE::Mutex: Provides a simple semaphore implementation supporting threads and processes.
MCE::Queue: Provides a hybrid queuing implementation for MCE supporting normal queues and priority queues from a single module. MCE::Queue exchanges data via the core engine to enable queuing to work for both children (spawned from fork) and threads.
MCE::Relay: Enables workers to receive and pass on information orderly with zero involvement by the manager process while running.

MCE MODELS

The models take Many-Core Engine to a new level for ease of use. Two options (chunk_size and max_workers) are configured automatically as well as spawning and shutdown.

MCE::Loop: Provides a parallel loop utilizing MCE for building creative loops.
MCE::Flow: A parallel flow model for building creative applications. This makes use of user_tasks in MCE. The author has full control when utilizing this model. MCE::Flow is similar to MCE::Loop, but allows for multiple code blocks to run in parallel with a slight change to syntax.
MCE::Grep: Provides a parallel grep implementation similar to the native grep function.
MCE::Map: Provides a parallel map model similar to the native map function.
MCE::Step: Provides a parallel step implementation utilizing MCE::Queue between user tasks. MCE::Step is a spin off from MCE::Flow with a touch of MCE::Stream. This model, introduced in 1.506, allows one to pass data from one sub-task into the next transparently.
MCE::Stream: Provides an efficient parallel implementation for chaining multiple maps and greps together through user_tasks and MCE::Queue. Like with MCE::Flow, MCE::Stream can run multiple code blocks in parallel with a slight change to syntax from MCE::Map and MCE::Grep.

MISCELLANEOUS

Miscellaneous additions included with the distribution.

MCE::Examples: Describes various demonstrations for MCE including a Monte Carlo simulation.
MCE::Subs: Exports functions mapped directly to MCE methods; e.g. mce_wid. The module allows 3 options; :manager, :worker, and :getter.

REQUIREMENTS

Perl 5.8.0 or later. PDL::IO::Storable is required in scripts running PDL.

SOURCE AND FURTHER READING

The source, cookbook, and examples are hosted at GitHub.