BOL: Related items

pbmm2:A minimap2 frontend for PacBio native data formats

BioStar — Tue, 18 Feb 2020 03:36:22 -0600

pbmm2 is a SMRT C++ wrapper for minimap2's C API. Its purpose is to support native PacBio in- and output, provide sets of recommended parameters, generate sorted output on-the-fly, and postprocess alignments. Sorted output can be used directly for polishing using GenomicConsensus, if BAM has been used as input to pbmm2. Benchmarks show that pbmm2 outperforms BLASR in sequence identity, number of mapped bases, and especially runtime. pbmm2 is the official replacement for BLASR.

Address of the bookmark: https://github.com/PacificBiosciences/pbmm2

Parliament2: Runs a combination of tools to generate structural variant calls on whole-genome sequencing data

Jit — Thu, 28 May 2020 21:57:03 -0500

Parliament2 identifies structural variants in a given sample relative to a reference genome. These structural variants cover large deletion events that are called as Deletions of a region, Insertions of a sequence into a region, Duplications of a region, Inversions of a region, or Translocations between two regions in the genome.

Parliament2 runs a combination of tools to generate structural variant calls on whole-genome sequencing data. It can run the following callers: Breakdancer, Breakseq2, CNVnator, Delly2, Manta, and Lumpy. Because of synergies in how the programs use computational resources, these are all run in parallel. Parliament2 will produce the outputs of each of the tools for subsequent investigation.

Address of the bookmark: https://github.com/dnanexus/parliament2

DADA2: Fast and accurate sample inference from amplicon data with single-nucleotide resolution

Jit — Tue, 10 Nov 2020 20:26:00 -0600

The DADA2 tutorial goes through a typical workflow for paired end Illumina Miseq data: raw amplicon sequencing data is processed into the table of exact amplicon sequence variants (ASVs) present in each sample.

The DADA2 Workflow on Big Data goes through workflow optimized to run on large datasets (10s of millions to billions of reads).

An ITS-specific version of the DADA2 workflow identifies and verifiably removes primers on both ends of each ITS read, a key step due to the variable length of the ITS region.

Short demonstrations of assigning taxonomy and assigning species to sequences.

Address of the bookmark: https://benjjneb.github.io/dada2/index.html

Ktrim: an extra-fast and accurate adapter- and quality-trimmer for sequencing data

Jit — Thu, 11 Feb 2021 21:39:05 -0600

Ktrim is written in C++ for GNU Linux/Unix platforms. After uncompressing the source package, you can find an executable file ktrim under bin/ directory compiled using g++ v4.8.5 and linked with libz v1.2.7 for Linux x86_64 system. If you could not run it (which is usually caused by low version of libc++ or libz library) or you want to build a version optimized for your system, you can re-compile the programs:

user@linux$ make clean && make

Address of the bookmark: https://github.com/hellosunking/Ktrim

PLAR: Pipeline for lncRNA annotation from RNA-seq data

Abhi — Fri, 07 Jan 2022 06:18:01 -0600

Due to several requests, we are releasing an assingment of orthologs, determined using the same methods used in Hezroni et al. (BLAST, Whole Genome Alignment (WGA), and synteny). One is comparing human GENCODE genes (from GENCODE v30) to lncRNAs from other species identified by PLAR. Available here.

Species	Assembly	Code	Transcriptome	lncRNAs	Protein-coding
Human	hg19	hg19	Download	Download	Download
Rhesus	rheMac3	rm3	Download	Download	Download
Marmoset	calJac3	cj3	Download	Download	Download
Mouse	mm9	mm9	Download	Download	Download
Rabbit	oryCun2	oc2	Download	Download	Download
Dog	canFam3	cf3	Download	Download	Download
Ferret	musFur1	oa3	Download	Download	Download
Opossum	monDom5	md5	Download	Download	Download
Chicken	galGal4	gg4	Download	Download	Download
Lizard	anoCar2	ac2	Download	Download	Download
Coelacanth	latCha1	lc1	Download	Download	Download
Zebrafish	danRer7	dr7	Download	Download	Download
Stickleback	gasAcu1	ga1	Download	Download	Download
Nile tilapia	oreNil2	ot2	Download	Download	Download
Spotted gar	lepOcu1	lo1	Download	Download	Download
Elephant shark	calMil1	cm1	Download	Download	Download
Sea urchin	strPur4	sp4	Download	Download	Download

Address of the bookmark: http://www.weizmann.ac.il/Biological_Regulation/IgorUlitsky/PLAR

gget

BioStar — Sat, 01 Apr 2023 09:42:07 -0500

gget is a free, open-source command-line tool and Python package that enables efficient querying of genomic databases. gget consists of a collection of separate but interoperable modules, each designed to facilitate one type of database querying in a single line of code.

Address of the bookmark: https://github.com/pachterlab/gget

BioKit: a set of tools dedicated to bioinformatics, data visualisation

Neel — Tue, 18 Jun 2024 02:04:39 -0500

BioKit is a set of tools dedicated to bioinformatics, data visualisation (biokit.viz), access to online biological data (e.g. UniProt, NCBI thanks to bioservices). It also contains more advanced tools related to data analysis (e.g., biokit.stats). Since R is quite common in bioinformatics, we also provide a convenient module to run R inside your Python scripts or shell (:mod:biokit.rtools module).

Address of the bookmark: https://biokit.readthedocs.io/en/latest/index.html

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/

GA4GH Data Working Group

Jitendra Prajapati — Sun, 20 Mar 2016 23:13:07 -0500

GA4GH Data Working Group

Led by David Haussler (UCSC) and Richard Durbin (Sanger Institute), the Data Working Group (DWG) of the Global Alliance brings together the leading Genome Institutes and Centers with IT industry leaders to create global standards and tools for the secure, privacy respecting and interoperable sharing of Genomic data.

More at http://ga4gh.org/#/

Address of the bookmark: http://ga4gh.org/#/

Platypus: A Haplotype-Based Variant Caller For Next Generation Sequence Data

Shruti Paniwala — Thu, 25 Oct 2018 06:14:55 -0500

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