Essentials: | |
pibase_bamref | Extract information from a BAM-file and a reference sequence file and table this information into a tab-separated text file. |
pibase_consensus | Infer '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_fisherdiff | Compare 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pibase_tosnpacts | Works with our unpublished annotation pipeline. Contact us if you wish us to annotate your pibase files with our annotations. |
pibase_annot | Works with our unpublished annotation pipeline. Contact us if you wish us to annotate your pibase files with our annotations. |
pibase_tag | Add primer region tags to a pibase_bamref, pibase_consensus, pibase_fisherdiff, or pibase_annot file. |
Phylogenetics: | |
pibase_to_rdf | Generate rdf file (for phylogenetic network analysis) from set of pibase_fisherdiff files. |
pibase_rdf_ref | Generate 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_crs | Extract Cambridge Reference Sequence (Anderson 1981) variants from reads mapped to chrM (hg18, hg19, or NCBI36). |
Utilities: | |
pibase_to_vcf | Convert a single-sample pibase file into VCFv4.1 format. |
pibase_c_to_contig | Convert pibase-contig-numbers into contig names (e.g. 25 -> chrM). |
pibase_flagsnp | Flag non-reference genotypes in a pibase_consensus file as potential mismatches ("SNPs" in NGS-parlance). |
pibase_diff | Compare two pibase_consensus files using (BestGen) genotypes and a (BestQual) quality threshold. |
pibase_gen_from_snpacts | Works with our unpublished annotation pipeline.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_ref | Gets 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. |
2012年9月25日星期二
pibase - validational and comparative analysis of BAM files
http://www.ikmb.uni-kiel.de/pibase/
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