ScanRetroCopy
Scan BAM for retrocopies
Usage
This program is now part of the main jvarkit tool. See jvarkit for compiling.
Usage: java -jar dist/jvarkit.jar scanretrocopy [options] Files
Usage: scanretrocopy [options] Files
Options:
--bam
Optional: save matching read in this bam file
--bedpe, -P, -J
Optional. Save possible sites of insertion in this Bed-PE file.
--both
Force the constraint that both sides of a deleted intron should have at
least '--min-depth' reads
Default: false
--coding
ignore non-coding transcripts.
Default: false
-h, --help
print help and exit
--helpFormat
What kind of help. One of [usage,markdown,xml].
-k, -K, --kg, -kg
Transcrips as genpred format
https://genome.ucsc.edu/FAQ/FAQformat.html#format9 . The genePred
format is a compact alternative to GFF/GTF because one transcript is
described using only one line. Beware chromosome names are formatted the
same as your REFERENCE. A typical KnownGene file is
http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/knownGene.txt.gz
.If you only have a gff file, you can try to generate a knownGene file
with [http://lindenb.github.io/jvarkit/Gff2KnownGene.html](http://lindenb.github.io/jvarkit/Gff2KnownGene.html)
--mapq, -mapq
Min mapping quality
Default: 1
-n, --min-cigar-size
Minimal cigar element length.
Default: 6
--min-depth, -D
In a transcript one must found at least 'D' reads with a clip-length>
'min-cigar-size'.
Default: 1
-o, --output
Output file. Optional . Default: stdout
--partition
Data partitioning using the SAM Read Group (see
https://gatkforums.broadinstitute.org/gatk/discussion/6472/ ) . It can
be any combination of sample, library....
Default: sample
Possible Values: [readgroup, sample, library, platform, center, sample_by_platform, sample_by_center, sample_by_platform_by_center, any]
* -r, -R, --reference
Indexed fasta Reference file. This file must be indexed with samtools
faidx and with picard/gatk CreateSequenceDictionary or samtools dict
--version
print version and exit
--bai, -bai, --with-bai
Use random access BAM using the bai and using the knownGene data. May be
slow at startup
Default: false
Keywords
- sam
- bam
- cigar
- clip
- sv
- retrocopy
Creation Date
20190125
Source code
Unit Tests
Contribute
- Issue Tracker: http://github.com/lindenb/jvarkit/issues
- Source Code: http://github.com/lindenb/jvarkit
License
The project is licensed under the MIT license.
Citing
Should you cite scanretrocopy ? https://github.com/mr-c/shouldacite/blob/master/should-I-cite-this-software.md
The current reference is:
http://dx.doi.org/10.6084/m9.figshare.1425030
Lindenbaum, Pierre (2015): JVarkit: java-based utilities for Bioinformatics. figshare. http://dx.doi.org/10.6084/m9.figshare.1425030
Example
$ java -jar dist/scanretrocopy.jar --bai -R human_g1k_v37.fasta \
"http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/phase3/data/HG00096/high_coverage_alignment/HG00096.wgs.ILLUMINA.bwa.GBR.high_cov_pcr_free.20140203.bam"
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT HG00096
2 179296982 . C <RETROCOPY> 108 . AC=1;AF=0.500;AN=2;DP=108;END=179300872;MAXLEN=121;RCP=ENST00000325748.4|-|Exon1|CTCAGTTCAT|CTATATCCAA|Exon2,ENST00000438687.3|-|Exon1|CTCAGTTCAT|CTATATCCAA|Exon2,ENST00000487082.1|-|Exon1|CTCAGTTCAT|CTATATCCAA|Exon2,ENST00000432031.2|-|Exon1|CTCAGTTCAT|CTATATCCAA|Exon2;SVLEN=3891;SVTYPE=DEL GT:DP:MAXLEN 0/1:108:121
2 179301047 . C <RETROCOPY> 48 . AC=1;AF=0.500;AN=2;DP=48;END=179306337;MAXLEN=60;RCP=ENST00000325748.4|-|Exon2|CTACATTTGT|TAAAGAAATG|Exon3,ENST00000432031.2|-|Exon2|CTACATTTGT|TAAAGAAATG|Exon3,ENST00000438687.3|-|Exon2|CTACATTTGT|TAAAGAAATG|Exon3,ENST00000487082.1|-|Exon2|CTACATTTGT|TAAAGAAATG|Exon3;SVLEN=5291;SVTYPE=DEL GT:DP:MAXLEN 0/1:48:60
Note to self
get a report per gene:
find dir -type f -name "*.tsv" -exec cut -f 4,13 '{}' ';' | awk '{G[$1]=1;S[$2]=1;H[sprintf("%s~%s",$1,$2)]=1;} END{for(g in G) {printf("%s\t",g);n=0;for(s in S) {k=sprintf("%s~%s",g,s);if(k in H){n++;printf("%s;",s);}} printf("\t%d\n",n);}}' | sort -t $'\t' -k3,3n
more flexibility with a jjs script
var br = new java.io.BufferedReader( new java.io.InputStreamReader(java.lang.System.in));
var line;
var samples={};
var genes={};
var map={};
while((line=br.readLine())!=null) {
if(line.startsWith("#")) continue;
//if(line.contains("LowQual")) continue;
if(line.contains("NON_CODING")) continue;
var columns = line.split(/\t/);
var qual=parseInt(columns[5]);
var infos=columns[7].split(/\;/);
var sample="";
for(var i in infos)
{
var info=infos[i];
if(info.startsWith("SAMPLES="))
{
var eq=info.indexOf("=");
sample=info.substr(eq+1);
samples[sample]=1;
break;
}
}
for(var i in infos)
{
var info=infos[i];
if(info.startsWith("RCP="))
{
var eq=info.indexOf("=");
var rcps=info.substring(eq+1).split(/[,]/);
for(var j in rcps)
{
var gene =rcps[j].split(/\|/)[0];
if(gene in genes)
{
genes[gene].score = Math.max(genes[gene].score,qual);
}
else
{
genes[gene]={
"score":qual,
"samples":{}
};
}
genes[gene].samples[sample]=1;
}
}
}
}
var out=java.lang.System.out;
for(var gene in genes)
{
var n=0;
var array=[];
for(var sample in genes[gene].samples) {
array.push(sample);
n++;
}
if(n>1) continue;
out.print(gene);
out.print("\t");
out.print(genes[gene].score);
out.print("\t");
out.print(array.join(";"));
out.print("\t");
out.print(n);
out.println();
}