Address of the bookmark: https://genomebiology.biomedcentral.com/articles/10.1186/gb-2002-3-12-research0082

Address of the bookmark: https://github.com/ggonnella/gfaviz

https://github.com/CSB5/lofreq

http://csb5.github.io/lofreq/installation/

https://github.com/CSB5/lofreq/tree/master/dist

Address of the bookmark: http://csb5.github.io/lofreq/

• single-end/paired-end bulk RNA-seq (strand-specific/agnostic)
• paired-end single-cell RNA-seq (strand-specific/agnostic)
• nanopore RNA-seq (PCR cDNA/direct cDNA/direct RNA)

Written by Ka Ming Nip ✉️

Address of the bookmark: https://github.com/bcgsc/RNA-Bloom

This also includes:

• A2Amapper: ATAC, Assembly to Assembly Comparision tool:
  • Comparative mapping between two genome assemblies (same species), or between two different genomes (cross species).

• Sim4db:
  • Spliced alignment of cDNA and genomic sequences, from the same (sim4) or related (sim4cc) species. Optimized for high-throughput batched alignment.

• LEAFF:
  • LEAFF (ahem, Let's Extract Anything From Fasta) is a utility program for working with multi-fasta files. In addition to providing random access to the base level, it includes several analysis functions.

• Meryl:
  • An out-of-core k-mer counter. The amount of sequence that can be processed for any size k depends only on the amount of free disk space.

Address of the bookmark: https://help.rc.ufl.edu/doc/Kmer

More at https://www.nature.com/articles/s41592-023-01970-4

Address of the bookmark: https://github.com/seryrzu/unialigner

Since version 2.8, it implements an SMO-type algorithm proposed in this paper:
R.-E. Fan, P.-H. Chen, and C.-J. Lin. Working set selection using second order information for training SVM. Journal of Machine Learning Research 6, 1889-1918, 2005. You can also find a pseudo code there. (how to cite LIBSVM)

Our goal is to help users from other fields to easily use SVM as a tool. LIBSVM provides a simple interface where users can easily link it with their own programs. Main features of LIBSVM include

• Different SVM formulations
• Efficient multi-class classification
• Cross validation for model selection
• Probability estimates
• Various kernels (including precomputed kernel matrix)
• Weighted SVM for unbalanced data
• Both C++ and Java sources
• GUI demonstrating SVM classification and regression
• Python, R, MATLAB, Perl, Ruby, Weka, Common LISP, CLISP, Haskell, OCaml, LabVIEW, and PHP interfaces. C# .NET code and CUDA extension is available. 
  It's also included in some data mining environments: RapidMiner, PCP, and LIONsolver.
• Automatic model selection which can generate contour of cross validation accuracy.

https://www.csie.ntu.edu.tw/~cjlin/libsvm/

Address of the bookmark: https://www.csie.ntu.edu.tw/~cjlin/libsvm/

More at https://bitbucket.org/dranew/destruct

Address of the bookmark: https://bitbucket.org/dranew/destruct

Like other indel callers, Scalpel works by performing de novo assembly of regions of interest, so that misalignment to the reference genome cannot obscure the presence of an insertion or deletion. Scalpel's innovation is to repeatedly check its assembly before comparing to the reference genome, to account for simple sequence repeats that are a regular source of error in indel calling. When Scalpel assembles an exon, it collects reads that map to that exon (including partial matches), splits them into k-mers, and creates a de Bruijn graph to span the exon; however, if it detects repeats in the map, it iteratively increases the size of the k-mers by one base until the repeats are eliminated. This ensures that the final assembly of the exon is highly accurate while minimizing compute time.

The Cold Spring Harbor team's validation of Scalpel, published over the weekend in Nature Methods, compares Scalpel's performance on a live whole exome against HaplotypeCaller and SOAPindel. The donor is an individual with serious neurological disorders, which may be linked to a high incidence of indels. One thousand indels from this individual's exome, called by one or more of the informatics pipelines, were selected for focused resequencing. This resequencing revealed a 77% true positive rate for Scalpel calls, dramatically better than the rates for either of the competing tools; Scalpel performed especially well with indels longer than five base pairs, a traditional weak point for indel callers.

Finally, the authors demonstrate Scalpel's use on a large set of genetic data from nearly 600 families who donated samples to the Simons Simplex Collection, a project of the Simons Foundation Autism Research Initiative. Scalpel found a very high enrichment for indels in children affected by autism, compared with their unaffected siblings, a pattern that persisted even after excluding common variants.

Toolkit for Automated and Rapid DIscovery of Structural variants

Requirements

zlib (http://www.zlib.net)
mrfast (https://github.com/BilkentCompGen/mrfast)
htslib (included as submodule; http://htslib.org/)
Fetching tardis

git clone https://github.com/BilkentCompGen/tardis.git --recursive

https://github.com/BilkentCompGen/tardis

Address of the bookmark: https://github.com/BilkentCompGen/tardis