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Requesting Insights on Potential Complex Structural Event Indicated by IGV
Manta IGV variant translocation structural
updated 6 days ago by ▴ 30 • written 8 months ago by ▴ 10
0
votes
2
replies
487
views
Error Reading gencode.v38.genes.json.gz File in SvAnna CLI Tool
Structural-Variant SVAnna
9 months ago by pragnapcu ▴ 10
0
votes
2
replies
1.2k
views
Why the number of reads in bam generated by GATK haplotype caller are more than the bam generated after GATK baserecalibrator
BaseRecalibrator BAM GATK READ HaplotypeCaller
19 months ago by pragnapcu ▴ 10
0
votes
1
reply
804
views
How do I integrate GRCh38 CADD v1.6 offline with ANNOVAR?
CADD v1.6 ANNOVAR
updated 19 months ago by ★ 2.3k • written 19 months ago by ▴ 10
2
votes
5
replies
880
views
How Haplotypecaller could call a 17-bp duplication that is not seen in sorted bam (in IGV)?
BaseRecalibrator IGV GATK HaplotypeCaller frameshiftinsertion
2.1 years ago by pragnapcu ▴ 10
0
votes
4
replies
846
views
Why do I see sudden rise in TOTAL COUNT of my bam. I dont think it is duplication?
BAM IGV GATK duplication
2.1 years ago by pragnapcu ▴ 10
2
votes
2
replies
771
views
How to Visualize unmapped bam generated from GATK FastqToSam?
FastqToSam UnmappedBam GATK
2.2 years ago by pragnapcu ▴ 10
0
votes
0
replies
600
views
How can I give dbscsv11.txt.gz and dbscsv11.txt.gz.tbi to tableannovar --protocol instead of dbscsv11.txt and dbscsv11.txt.tbi?
dbscsnv GATK Annovar
2.2 years ago by pragnapcu ▴ 10
3
votes
3
replies
1.4k
views
Why different read depth on IGV and in VCF for a variant
depth GATK read haplotypecaller IGV
updated 2.3 years ago by 9.0k • written 2.3 years ago by ▴ 10
0
votes
1
reply
625
views
How can I identify common variants in siblings with same disorder after joint calling?
joint calling variants common Shared
updated 2.3 years ago by 164k • written 2.3 years ago by ▴ 10
1
vote
0
replies
627
views
How do I get single multianno.txt file for multiple samples from Annovar?
joint table_annovar.pl GATK Annovar typing
2.3 years ago by pragnapcu ▴ 10
0
votes
1
reply
745
views
How to select dataset from 1000 genome
1000genomes vcf
updated 20 months ago by 44k • written 3.3 years ago by ▴ 10
3
votes
5
replies
1.6k
views
Where do I get a WES dataset of size <1GB
WGS WES genomics
updated 3.3 years ago by ★ 2.9k • written 3.3 years ago by ▴ 10
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