#!/bin/bash root=`dirname $0` url38="ftp://ftp.ncbi.nlm.nih.gov/genbank/genomes/Eukaryotes/vertebrates_mammals/Homo_sapiens/GRCh38/seqs_for_alignment_pipelines/GCA_000001405.15_GRCh38_full_analysis_set.fna.gz" url37d5="ftp://ftp.ncbi.nlm.nih.gov/1000genomes/ftp/technical/reference/phase2_reference_assembly_sequence/hs37d5.fa.gz" if [ $# -eq 0 ]; then echo "Usage: $0 " echo "Analysis sets:" echo " hs38 primary assembly of GRCh38 (incl. chromosomes, unplaced and unlocalized contigs) and EBV" echo " hs38a hs38 plus ALT contigs" echo " hs38DH hs38a plus decoy contigs and HLA genes (recommended for GRCh38 mapping)" echo " hs37 primary assembly of GRCh37 (used by 1000g phase 1) plus the EBV genome" echo " hs37d5 hs37 plus decoy contigs (used by 1000g phase 3)" echo "" echo "Note: This script downloads human reference genomes. For hs38a and hs38DH, it needs additional" echo " sequences and ALT-to-REF mapping included in the bwa.kit package." exit 1; fi if [ $1 == "hs38DH" ]; then (wget -O- $url38 | gzip -dc; cat $root/resource-GRCh38/hs38DH-extra.fa) > $1.fa [ ! -f $1.fa.alt ] && cp $root/resource-GRCh38/hs38DH.fa.alt $1.fa.alt elif [ $1 == "hs38a" ]; then wget -O- $url38 | gzip -dc > $1.fa [ ! -f $1.fa.alt ] && grep _alt $root/resource-GRCh38/hs38DH.fa.alt > $1.fa.alt elif [ $1 == "hs38" ]; then wget -O- $url38 | gzip -dc | awk '/^>/{f=/_alt/?0:1}f' > $1.fa elif [ $1 == "hs37d5" ]; then wget -O- $url37d5 | gzip -dc > $1.fa 2>/dev/null elif [ $1 == "hs37" ]; then wget -O- $url37d5 | gzip -dc 2>/dev/null | awk '/^>/{f=/>hs37d5/?0:1}f' > $1.fa else echo "ERROR: unknown genome build" fi [ ! -f $1.fa.bwt ] && echo -e "\nPlease run 'bwa index $1.fa'...\n"