diff --git a/bwakit/README.md b/bwakit/README.md index d56a9e4d..8bf9b03f 100644 --- a/bwakit/README.md +++ b/bwakit/README.md @@ -17,7 +17,7 @@ other programs or use data in `bwa.kit`. The following shows an example about how to use bwakit: ```sh -# Download bwakit (or from manually) +# Download the bwa-0.7.11 binary package (download link may change) wget -O- http://sourceforge.net/projects/bio-bwa/files/bwakit/bwakit-0.7.11_x64-linux.tar.bz2/download \ | gzip -dc | tar xf - # Generate the GRCh38+ALT+decoy+HLA and create the BWA index @@ -50,7 +50,7 @@ bwa.kit |-- README.md This README file. |-- run-bwamem *Entry script* for the entire mapping pipeline. |-- bwa *BWA binary* -|-- k8 Interpreter for *.js scripts. +|-- k8 Interpretor for *.js scripts. |-- bwa-postalt.js Post-process alignments to ALT contigs/decoys/HLA genes. |-- htsbox Used by run-bwamem for shuffling BAMs and BAM=>FASTQ. |-- samblaster MarkDuplicates for reads from the same library. v0.1.20 @@ -60,10 +60,8 @@ bwa.kit | |-- run-gen-ref *Entry script* for generating human reference genomes. |-- resource-GRCh38 Resources for generating GRCh38 -| |-- hs38d6-decoy.nt.anno Top decoy-to-nt hits. Not used by any scripts. -| |-- hs38d6-decoy.rm.out RepeatMasker report. Not used. -| |-- hs38d6-extra.fa Decoy and HLA gene sequences. Used by run-gen-ref. -| `-- hs38d6.fa.alt ALT-to-GRCh38 alignment. Used by run-gen-ref. +| |-- hs38D1-extra.fa Decoy and HLA gene sequences. Used by run-gen-ref. +| `-- hs38D1.fa.alt ALT-to-GRCh38 alignment. Used by run-gen-ref. | |-- run-HLA HLA typing for sequences extracted by bwa-postalt.js. |-- typeHLA.sh Type one HLA-gene. Called by run-HLA. diff --git a/bwakit/run-gen-ref b/bwakit/run-gen-ref index 3be3325c..8a6baa0e 100755 --- a/bwakit/run-gen-ref +++ b/bwakit/run-gen-ref @@ -6,16 +6,16 @@ url38="ftp://ftp.ncbi.nlm.nih.gov/genbank/genomes/Eukaryotes/vertebrates_mammals 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 "Usage: $0 " exit 1; fi -if [ $1 == "hs38d6" ]; then - (wget -O- $url38 | gzip -dc; cat $root/resource-GRCh38/hs38d6-extra.fa) > $1.fa - [ ! -f $1.fa.alt ] && cp $root/resource-GRCh38/hs38d6.fa.alt $1.fa.alt +if [ $1 == "hs38D1" ]; then + (wget -O- $url38 | gzip -dc; cat $root/resource-GRCh38/hs38D1-extra.fa) > $1.fa + [ ! -f $1.fa.alt ] && cp $root/resource-GRCh38/hs38D1.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/hs38d6.fa.alt > $1.fa.alt + [ ! -f $1.fa.alt ] && grep _alt $root/resource-GRCh38/hs38D1.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