BOL: Related items

Liftoff: An accurate GFF3/GTF lift over pipeline

Neel — Sun, 20 Dec 2020 01:36:37 -0600

Liftoff is a tool that accurately maps annotations in GFF or GTF between assemblies of the same, or closely-related species. Unlike current coordinate lift-over tools which require a pre-generated “chain” file as input, Liftoff is a standalone tool that takes two genome assemblies and a reference annotation as input and outputs an annotation of the target genome.

Address of the bookmark: https://github.com/agshumate/Liftoff

dna2bit: an ultra-fast and accurate genomic distance estimation software

LEGE — Sun, 31 Aug 2025 06:24:58 -0500

dna2bit is a software tool developed in C++11, leveraging the capabilities of OpenMP for parallel computing and the popcount technique for efficient bit manipulation. It has been thoroughly tested using the g++ and clang compilers on both Linux and MacOS platforms.

Address of the bookmark: https://github.com/lijuzeng/dna2bit

RapClust: Accurate, Lightweight Clustering of de novo Transcriptomes using Fragment Equivalence Classes

Rahul Nayak — Thu, 04 Oct 2018 17:57:10 -0500

RapClust is a tool for clustering contigs from de novo transcriptome assemblies. RapClust is designed to be run downstream of the Sailfish or Salmon tools for rapid transcript-level quantification. Specifically, RapClust relies on the fragment equivalence classes computed by these tools in order to determine how seqeunce is shared across the transcriptome, and how reads map to potentially-related contigs across different conditions.

Address of the bookmark: https://github.com/COMBINE-lab/RapClust

Cleaner BLAST Databases for More Accurate Results

LEGE — Tue, 23 Apr 2024 01:23:08 -0500

Do you use BLAST to identify a sequence or the evolutionary scope of a gene? That can be challenging if contaminated and misclassified sequences are in the BLAST databases and show up in your search results. To address this problem, we now use the NCBI quality assurance tools listed below to systematically remove these misleading sequences from the default nucleotide (nt) and protein (nr) BLAST databases.

Foreign Contamination Screen tool for genome cross-species screening (FCS-GX) detects contamination from foreign organisms in genomes and other sequences using the genome cross-species aligner (GX)
Average Nucleotide Identity (ANI) evaluates the taxonomic classification of prokaryotic genome assemblies. Sequences from genomes marked up as ‘unverified source organism’ are considered suspect and removed.

Ref https://ncbiinsights.ncbi.nlm.nih.gov/2024/04/22/cleaner-blast-databases-more-accurate-results/

Platanus

Jit — Fri, 13 May 2016 05:12:40 -0500

Platanus is a novel de novo sequence assembler that can reconstruct genomic sequences of
highly heterozygous diploids from massively parallel shotgun sequencing data.

The latest version is 1.2.4.

To cite Platanus, please use the following:

Kajitani R, Toshimoto K, Noguchi H, Toyoda A, Ogura Y, Okuno M, Yabana M, Harada M, Nagayasu E, Maruyama H, Kohara Y, Fujiyama A, Hayashi T, Itoh T, “Efficient de novo assembly of highly heterozygous genomes from whole-genome shotgun short reads”. Genome Res. 2014 Aug;24(8):1384-95. doi: 10.1101/gr.170720.113. [abstract | full text]

Address of the bookmark: http://platanus.bio.titech.ac.jp/

FERMI

Jit — Fri, 09 Sep 2016 05:37:13 -0500

Fermi is a de novo assembler with a particular focus on assembling Illumina short sequence reads from a mammal-sized genome. In addition to the role of a typical assembler, fermi also aims to preserve heterozygotes which are often collapsed by other assemblers. Its ultimate goal is to find a minimal set of
unitigs to represent all the information in raw reads.

Fermi follows the overlap-layout-consensus paradigm and uses the FM-DNA-index (FMD-index) as the key data structure. It is inspired by the string graph assembler (Simpson and Durbin, 2010 and 2012) and has a similar workflow.

As a typical de novo assembler, fermi tends to produce contigs with slightly longer N50. However, the major weakness of fermi is the high misassembly rate. Although fermi provides a tool to fix misassemblies by using paired-end reads to achieve an accuracy comparable to other assemblers, this is not a favorable solution.

Fermi is designed to be used on a multi-core Linux machine with large shared memory. The easiest way to run fermi is to use the run-fermi.pl script. It generates a Makefile. The actual assembly is done by invoking make. Premature assembly processes can be resumed. Here is an example:

run-fermi.pl -dAPe ./fermi -p NA12878 -t16 -f18 reads*.fq.gz > NA12878.mak
make -f NA12878.mak -j16

Address of the bookmark: https://github.com/lh3/fermi

Hapsembler: An Assembler for Highly Polymorphic Genomes

Jit — Tue, 22 May 2018 04:09:53 -0500

Hapsembler is a haplotype-specific genome assembly toolkit that is designed for genomes that are rich in SNPs and other types of polymorphism. Hapsembler can be used to assemble reads from a variety of platforms including Illumina and Roche/454. http://compbio.cs.toronto.edu/hapsembler/

Address of the bookmark: http://compbio.cs.toronto.edu/hapsembler/

Ranbow: a haplotype assembler for polyploid genomes

Jit — Fri, 01 Jun 2018 07:21:54 -0500

Ranbow is a haplotype assembler for polyploid genomes. It has been developed for the haplotype assembly of the hexaploid sweet potato genome, which is highly heterozygous. Ranbow can also be applied to other polyploid genomes. After a first phasing, Ranbow utilizes the assembled haplotypes to improve the accuracy of variant calling results and to infer the evolutionary history of the organism´s genome. Ranbow has three main modes of function: ranbow hap: for haplotyping ranbow eval: for evaluating of the assemble haplotypes by gold standard (long) reads ranbow phylo: for the phylogenetic analysis

Address of the bookmark: https://www.molgen.mpg.de/ranbow

Integrative Meta-Assembly Pipeline (IMAP): Chromosome-level genome assembler combining multiple de novo assemblies

Jit — Sat, 31 Aug 2019 11:30:41 -0500

Chromosome-level genome assembler combining multiple de novo assemblies

https://github.com/jkimlab/IMAP

Address of the bookmark: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0221858

Tadpole: an assembler, error-corrector, and read-extender

BioStar — Tue, 04 Feb 2020 23:35:40 -0600

Tadpole is a kmer-based assembler, with additional capabilities of error-correcting and extending reads. It does not do any complicated graph analysis or scaffolding, and therefore, is not particularly good for diploid organisms. Tadpole is very conservative and optimized for correctness rather than length; which is to say, it stops at every branch, and condenses every repeat. Also, it does not currently do scaffolding.

To error-correct reads:
tadpole.sh in=reads.fq out=corrected.fq mode=correct

To extend reads by 50bp in each direction:
tadpole.sh in=reads.fq out=extended.fq mode=extend el=50 er=50

To error-correct and extend at the same time, using a kmer length of 62:
tadpole.sh in=reads.fq out=extended.fq mode=extend el=50 er=50 k=62 ecc=t

More at http://seqanswers.com/forums/showthread.php?t=61445

Address of the bookmark: https://jgi.doe.gov/data-and-tools/bbtools/bb-tools-user-guide/tadpole-guide/