#!/bin/sh # # Downloads sequence for the GRCh38 release 84 version of H. sapiens (human) from # Ensembl. # # Note that Ensembl's GRCh38 build has three categories of compressed fasta # files: # # The base files, named ??.fa.gz # # By default, this script builds and index for just the base files, # since alignments to those sequences are the most useful. To change # which categories are built by this script, edit the CHRS_TO_INDEX # variable below. # ENSEMBL_RELEASE=84 ENSEMBL_GRCh38_BASE=ftp://ftp.ensembl.org/pub/release-${ENSEMBL_RELEASE}/fasta/homo_sapiens/dna DBSNP_RELEASE=144 SNP_FILE=snp${DBSNP_RELEASE}Common.txt UCSC_COMMON_SNP=http://hgdownload.cse.ucsc.edu/goldenPath/hg38/database/${SNP_FILE} get() { file=$1 if ! wget --version >/dev/null 2>/dev/null ; then if ! curl --version >/dev/null 2>/dev/null ; then echo "Please install wget or curl somewhere in your PATH" exit 1 fi curl -o `basename $1` $1 return $? else wget $1 return $? fi } HISAT2_BUILD_EXE=./hisat2-build if [ ! -x "$HISAT2_BUILD_EXE" ] ; then if ! which hisat2-build ; then echo "Could not find hisat2-build in current directory or in PATH" exit 1 else HISAT2_BUILD_EXE=`which hisat2-build` fi fi HISAT2_SNP_SCRIPT=./hisat2_extract_snps_haplotypes_UCSC.py if [ ! -x "$HISAT2_SNP_SCRIPT" ] ; then if ! which hisat2_extract_snps_haplotypes_UCSC.py ; then echo "Could not find hisat2_extract_snps_haplotypes_UCSC.py in current directory or in PATH" exit 1 else HISAT2_SNP_SCRIPT=`which hisat2_extract_snps_haplotypes_UCSC.py` fi fi HISAT2_REPEAT_EXE=./hisat2-repeat if [ ! -x "$HISAT2_REPEAT_EXE" ]; then if ! which hisat2-repeat ; then echo "Could not find hisat2-repeat in current directory or in PATH" exit 1 else HISAT2_REPEAT_EXE=`which hisat2-repeat` fi fi rm -f genome.fa F=Homo_sapiens.GRCh38.dna.primary_assembly.fa if [ ! -f $F ] ; then get ${ENSEMBL_GRCh38_BASE}/$F.gz || (echo "Error getting $F" && exit 1) gunzip $F.gz || (echo "Error unzipping $F" && exit 1) mv $F genome.fa fi if [ ! -f $SNP_FILE ] ; then get ${UCSC_COMMON_SNP}.gz || (echo "Error getting ${UCSC_COMMON_SNP}" && exit 1) gunzip ${SNP_FILE}.gz || (echo "Error unzipping ${SNP_FILE}" && exit 1) awk 'BEGIN{OFS="\t"} {if($2 ~ /^chr/) {$2 = substr($2, 4)}; if($2 == "M") {$2 = "MT"} print}' ${SNP_FILE} > ${SNP_FILE}.tmp mv ${SNP_FILE}.tmp ${SNP_FILE} ${HISAT2_SNP_SCRIPT} genome.fa ${SNP_FILE} genome fi # Build repeat CMD="${HISAT2_REPEAT_EXE} -p 4 --repeat-count 5 --repeat-length 51-300,76-300,100-300,101-300,151-300 genome.fa genome_rep" echo Running $CMD $CMD [[ "$?" -eq 0 ]] || { echo "Index building failed; see error message"; exit 1; }; CMD="${HISAT2_BUILD_EXE} -p 4 genome.fa --snp genome.snp --haplotype genome.haplotype --repeat-ref genome_rep.rep.fa --repeat-info genome_rep.rep.info genome_snp_rep" echo Running $CMD if $CMD ; then echo "genome index built; you may remove fasta files" else echo "Index building failed; see error message" fi