translocation test cases
zeeev opened this issue · comments
@abolia @BrettKennedy @ryanabo,
I'm very close to adding translocation support to WHAM-GRAPHENING. I'm trying to round up some test cases in BAM format. Do you have any to share?
Hi Zev,
Sure, I can send you some. Would you like me to upload them to GNomEx or
somewhere else. Let me know.
Thanks,
Ashini
On Wed, Apr 13, 2016 at 9:39 AM, Zev Kronenberg notifications@github.com
wrote:
@abolia https://github.com/abolia @BrettKennedy
https://github.com/BrettKennedy @ryanabo https://github.com/ryanabo,I'm very close to adding translocation support to WHAM-GRAPHENING. I'm
trying to round up some test cases in BAM format. Do you have any to share?—
You are receiving this because you were mentioned.
Reply to this email directly or view it on GitHub
#31
Kind Regards,
Ashini Bolia
Hey Zev,
I have uploaded 2 bams on GNomEx:
https://hci-bio-app.hci.utah.edu/gnomex/gnomexFlex.jsp?analysisNumber=A3484
Sample SP-14-15849
True Positive: ALK gene chr2:29415639-30144477
Supected Partner: EML4 gene chr2:42396477-42559688
Sample SP-14-20579
True Positive: EWSR1 gene chr22:29663997-29686672
Supected Partner: WT1 gene chr11:32409321-32457081
Let me know if you need more BAM's.
Thanks,
Ashini
On Thu, Apr 14, 2016 at 12:41 PM, Ashini Bolia abolia@asu.edu wrote:
Hi Zev,
Sure, I can send you some. Would you like me to upload them to GNomEx or
somewhere else. Let me know.Thanks,
AshiniOn Wed, Apr 13, 2016 at 9:39 AM, Zev Kronenberg notifications@github.com
wrote:@abolia https://github.com/abolia @BrettKennedy
https://github.com/BrettKennedy @ryanabo https://github.com/ryanabo,I'm very close to adding translocation support to WHAM-GRAPHENING. I'm
trying to round up some test cases in BAM format. Do you have any to share?—
You are receiving this because you were mentioned.
Reply to this email directly or view it on GitHub
#31Kind Regards,
Ashini Bolia
@abolia Thank you. I'm trying them out now.
What reference genome was used? HG19?
Yes, hg19 was used.
Thanks,
Ashini
On Fri, Apr 15, 2016 at 9:04 AM, Zev Kronenberg notifications@github.com
wrote:
What reference genome was used? HG19?
—
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#31 (comment)
Kind Regards,
Ashini Bolia
@abolia Looks like it is a custom reference genome. I will need your reference.
Oh yeah, sorry I forgot to mention that. It is custom reference that
contains the phiX and adapter sponges. I uploaded the fasta, index and dict
files to GNomEx under the same analysis.
Thanks,
Ashini
On Fri, Apr 15, 2016 at 9:10 AM, Zev Kronenberg notifications@github.com
wrote:
@abolia https://github.com/abolia Looks like it is a custom reference
genome. I will need your reference.—
You are receiving this because you were mentioned.
Reply to this email directly or view it on GitHub
#31 (comment)
Kind Regards,
Ashini Bolia
Hi @abolia @BrettKennedy @srynobio,
WHAM-G, on the devel branch, calls BNDs (inter-chromosomal events). If you'd be interested in trying it follow the steps below. Otherwise I will let you know when a do a full release. Any feedback is welcome.
cd wham
checkout devel
make graphDebug
Here is an example of how to run it:
WHAM-GRAPHENING -e Y,MT,GL000207.1,GL000226.1,GL000229.1,GL000231.1,GL000210.1,GL000239.1,GL000235.1,GL000201.1,GL000247.1,GL000245.1,GL000197.1,GL000203.1,GL000246.1,GL000249.1,GL000196.1,GL000248.1,GL000244.1,GL000238.1,GL000202.1,GL000234.1,GL000232.1,GL000206.1,GL000240.1,GL000236.1,GL000241.1,GL000243.1,GL000242.1,GL000230.1,GL000237.1,GL000233.1,GL000204.1,GL000198.1,GL000208.1,GL000191.1,GL000227.1,GL000228.1,GL000214.1,GL000221.1,GL000209.1,GL000218.1,GL000220.1,GL000213.1,GL000211.1,GL000199.1,GL000217.1,GL000216.1,GL000215.1,GL000205.1,GL000219.1,GL000224.1,GL000223.1,GL000195.1,GL000212.1,GL000222.1,GL000200.1,GL000193.1,GL000194.1,GL000225.1,GL000192.1,NC_007605 -x 10 -a ~/shared_resources/gatk-resouces/human_g1k_v37.fasta -f CHM1_1.bam -x 5 > test 2> wham.err
After looking at you data I would highly recommend pre-trimming the reads to remove the high rate of N's. That will improve both WHAM and Delly calls.
Hi,
I was wondering what the status is on implementing translocation detection.
regards,
Tjitske
@Tjitskedv Currently, I don't have time time implement the translocation functionality. I'de be happy if someone was interested in helping.