2012年9月25日星期二

pibase - validational and comparative analysis of BAM files

http://www.ikmb.uni-kiel.de/pibase/

Essentials:
pibase_bamrefExtract information from a BAM-file and a reference sequence file and table this information into a tab-separated text file.
pibase_consensusInfer 'best' genotypes and their 'quality' classification, and optionally merge multiple pibase_bamref files (e.g. a control panel or several runs of the same patient) into a single file.
pibase_fisherdiffCompare two pibase_consensus files using Fisher's exact test on original data (aligned reads) rather than comparing processed data (SNP-calls or genotypes).


Annotate:
pibase_tosnpactsWorks with our unpublished annotation pipeline. Contact us if you wish us to annotate your pibase files with our annotations.
pibase_annotWorks with our unpublished annotation pipeline. Contact us if you wish us to annotate your pibase files with our annotations.
pibase_tagAdd primer region tags to a pibase_bamref, pibase_consensus, pibase_fisherdiff, or pibase_annot file.


Phylogenetics:
pibase_to_rdfGenerate rdf file (for phylogenetic network analysis) from set of pibase_fisherdiff files.
pibase_rdf_refGenerate a reference sample file from a pibase_consensus file, prior to generating the set of pibase_fisherdiff files required for pibase_to_rdf.
pibase_chrm_to_crsExtract Cambridge Reference Sequence (Anderson 1981) variants from reads mapped to chrM (hg18, hg19, or NCBI36).


Utilities:
pibase_to_vcfConvert a single-sample pibase file into VCFv4.1 format.
pibase_c_to_contigConvert pibase-contig-numbers into contig names (e.g. 25 -> chrM).
pibase_flagsnpFlag non-reference genotypes in a pibase_consensus file as potential mismatches ("SNPs" in NGS-parlance).
pibase_diffCompare two pibase_consensus files using (BestGen) genotypes and a (BestQual) quality threshold.
pibase_gen_from_snpactsWorks with our unpublished annotation pipeline. Contact us if you wish us to merge SNPs from SNP-callers, SNP-chips, or Sanger sequences into your pibase files for a genotype-comparison.
pibase_refGets 500 flanking nucleotides of reference sequence around each coordinate (of the input list) and outputs a pseudo-FASTA file. For example for manual Sanger-sequencing primer design.

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