SAM (Sequence Alignment/Map) is a flexible generic format for storing nucleotide sequence alignment. SAM tools provide efficient utilities on manipulating alignments in the SAM format.
Pysam is a python module for reading and manipulating Samfiles. It's a lightweight wrapper of the samtools C-API. Pysam also includes an interface for tabix.
Exome Variant Analysis Pipeline (NGS Data). Developed in R language, calling external programs for specific tasks. It can be run in parallel using many processors from the same machine, and can be easily extended to run in computer clusters (HPC). Still in its early stages, it's a work in progress
... [More] that is being used already for production in some research centers.
Features:
* Quality Control
* Mapping in a reference genome
* Tasks related to variants:
** Calling
** Filtering
** Annotating
** Reporting effects and basic statistics
* Sending an email once the run is finished.
More information: ueb(a)vhir.org [Less]
MiModD is an integrated solution for mapping-by-sequencing analysis of whole-genome sequencing (WGS) data from laboratory model organisms. It enables geneticists to identify the genetic mutations present in an organism starting from just raw WGS read data and a reference genome without the help of a
... [More] trained bioinformatician. Its linkage analysis engine NacreousMap represents a further development of and can be used as a drop-in replacement for CloudMap. [Less]
Cufflinks assembles transcripts, estimates their abundances, and tests for differential expression and regulation in RNA-Seq samples. It accepts aligned RNA-Seq reads and assembles the alignments into a parsimonious set of transcripts. Cufflinks then estimates the relative abundances of these
... [More] transcripts based on how many reads support each one, taking into account biases in library preparation protocols. [Less]
Vidjil is an open-source platform for the analysis of high-throughput sequencing data from lymphocytes, developed by the Bonsai bioinformatics team and its collaborators. V(D)J recombinations in lymphocytes are essential for immunological diversity. They are also useful markers of pathologies, and
... [More] in leukemia, are used to quantify the minimal residual disease during patient follow-up. High-throughput sequencing (NGS/HTS) now enables the deep sequencing of a lymphoid population with dedicated Rep-Seq methods and software. [Less]
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