Mercurial > repos > alonie > ensembl_vep
diff ensemb_rep_gvl-2bc9b66ada89/variant_effect_predictor/README.txt @ 0:9c00df4b30f5 draft default tip
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author | alonie |
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date | Thu, 06 Jun 2013 00:49:58 -0400 |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/ensemb_rep_gvl-2bc9b66ada89/variant_effect_predictor/README.txt Thu Jun 06 00:49:58 2013 -0400 @@ -0,0 +1,180 @@ +############################ +# # +# Variant Effect Predictor # +# # +############################ + +Copyright (c) 1999-2011 The European Bioinformatics Institute and +Genome Research Limited. All rights reserved. + +This software is distributed under a modified Apache license. +For license details, please see + +http://www.ensembl.org/info/about/code_licence.html + +Please email comments or questions to the public Ensembl +developers list at <dev@ensembl.org>. + +Questions may also be sent to the Ensembl help desk at +<helpdesk@ensembl.org> + +Quickstart +========== + +Install API and cache files, run in offline mode: + +perl INSTALL.pl +perl variant_effect_predictor.pl --offline + + +Documentation +============= + +For a summary of command line flags, run: + +perl variant_effect_predictor.pl --help + +For full documentation see + +http://www.ensembl.org/info/docs/variation/vep/vep_script.html + + + +Changelog +========= + +New in version 2.6 (July 2012) +------------------------------ + +- support for structural variant consequences + +- Sequence Ontology (SO) consequence terms now default + +- script runtime 3-4x faster when using forking + +- 1000 Genomes global MAF available in cache files + +- improved memory usage + + +New in version 2.5 (May 2012) +----------------------------- + +- SIFT and PolyPhen predictions now available for RefSeq transcripts + +- retrieve cell type-specific regulatory consequences + +- consequences can be retrieved based on a single individual's genotype in + a VCF input file + +- find overlapping structural variants + +- Condel support removed from main script and moved to a plugin + + +New in version 2.4 (February 2012) +---------------------------------- +- offline mode and new installer script make it easy to use the VEP without + the usual dependencies + +- output columns configurable using the --fields flag + +- VCF output support expanded, can now carry all fields + +- output affected exon and intron numbers with --numbers + +- output overlapping protein domains using --domains + +- enhanced support for LRGs + +- plugins now work on variants called as intergenic + + +New in version 2.3 (December 2011) +---------------------------------- + +- Add custom annotations from tabix-indexed files (BED, GFF, GTF, VCF, bigWig) + +- Add new functionality to the VEP with user-written plugins + +- Filter input on consequence type + + +Version 2.2 (September 2011) +---------------------------- + +- SIFT, PolyPhen and Condel predictions and regulatory features now accessible + from the cache + +- Support for calling consequences against RefSeq transcripts + +- Variant identifiers (e.g. dbSNP rsIDs) and HGVS notations supported as input + format + +- Variants can now be filtered by frequency in HapMap and 1000 genomes + populations + +- Script can be used to convert files between formats (Ensembl/VCF/Pileup/HGVS + to Ensembl/VCF/Pileup) + +- Large amount of code moved to API modules to ensure consistency between web + and script VEP + +- Memory usage optimisations + +- VEP script moved to ensembl-tools CVS module + +- Added --canonical, --per_gene and --no_intergenic options + + +Version 2.1 (June 2011) +----------------------- + +- ability to use local file cache in place of or alongside connecting to an + Ensembl database + +- significant improvements to speed of script + +- whole-genome mode now default (no disadvantage for smaller datasets) + +- improved status output with progress bars + +- regulatory region consequences now reinstated and improved + +- modification to output file - Transcript column is now Feature, and is + followed by a Feature_type column + +- full documentation now online + + +Version 2.0 (April 2011) +------------------------ + +Version 2.0 of the Variant Effect Predictor script (VEP) constitutes a complete +overhaul of both the script and the API behind it. It requires at least version +62 of the Ensembl API to function. Here follows a summary of the changes: + +- support for SIFT, PolyPhen and Condel non-synonymous predictions in human + +- per-allele and compound consequence types + +- support for Sequence Ontology (SO) and NCBI consequence terms + +- modified output format + - support for new output fields in Extra column + - header section containing information on database and software versions + - codon change shown in output + - CDS position shown in output + - option to output Ensembl protein identifiers + - option to output HGVS nomenclature for variants + +- support for gzipped input files + +- enhanced configuration options, including the ability to read configuration + from a file + +- verbose output now much more useful + +- whole-genome mode now more stable + +- finding existing co-located variations now ~5x faster