SIFT missense predictions for genomes
收藏资源简介:
SIFT (sorting intolerant from tolerant) predicts whether an amino acid substitution is deleterious. It is used in disease, mutation and genetic studies. Users can get predictions for single-nucleotide variants from their organism of interest using the SIFT 4G annotator with SIFT 4G's precomputed databases. 1. Download the desired databaseThis dataset provides SIFT predictions for ~50 genomes. Format is <species_name>_<genome_build>.zip Extract the downloaded zip file.unzip <species_name>_<genome_build>.zip The unzipped folder will have three files for each chromosome: a compressed chromosome file (.gz) a regions file (.regions) a chromosome statistics file (.txt) 2. Download SIFT 4G Annotator: SIFT4G_Annotator.jarThis is a java executable (.jar)3. Annotate variants in a VCF file java -jar <Path to SIFT4G_Annotator> -c -i <Path to input vcf file> -d <Path to SIFT4G database directory> -r <Path to your results folder> -t Note: To run the Annotator via command line "-c" is essential (see the commandline parameters in the table below). If "-t" option is not used SIFT 4G extracts annotator single transcript per variant. The VCF file must have 8 columns, including the INFO column because SIFT annotations will be added there. Command line Options: Option Description -c To run on command line -i Path to your input variants file in VCF format -d Path to SIFT database directory -r Path to your output results folder -t To extract annotations for multiple transcripts (Optional) Code used to build these databases:- https://github.com/pauline-ng/SIFT4G_Create_Genomic_DB- https://github.com/rvaser/sift4g



