Comments (3)
Hi Zhiliang,
In real practice Paragraph treats duplications as insertions. With such treatment, the similarity between duplications can significant lower the genotyping performance. And for large DUPs (the one at 1:2388494), the best genotyping method should be read depth counting, but it's not in Paragraph current version yet. Let me check if there is any other good solutions for this case.
from paragraph.
For now maybe try GenomeStrip for CNVs? It should work for both discovery and genotyping mode:
http://software.broadinstitute.org/software/genomestrip/
It will work better if you have a bunch of samples running together.
from paragraph.
For now maybe try GenomeStrip for CNVs? It should work for both discovery and genotyping mode:
http://software.broadinstitute.org/software/genomestrip/
It will work better if you have a bunch of samples running together.
Hi,
Thanks for your reply and advice. That sounds great and I will have a try.
Zhiliang
from paragraph.
Related Issues (20)
- Can paragraph be used for indel from 2 bp to 30 bp? HOT 1
- ValueError: Invalid VariantRecord. Number of samples does not match header HOT 2
- Error with idxdepth: "Assertion failed: _impl->header_contig_map.count(chr) != 0" HOT 1
- Missing key SEQ for <INS> HOT 6
- --vcf-split option with no description
- subprocess.CalledProcessError HOT 2
- grmpy error: [E::cram_itr_query]
- index file
- How to merge multi-samples SVs and obtain breakpoints for genotyping a population
- no BGZF EOF marker
- Install paragraph
- Stop using Werror and Wall
- Genotyping for SNP
- idxdepth regex option not working
- Problem starting the script multigrmpy.py HOT 2
- Error when working with `--ins-info-key` HOT 1
- Add support for VCFv4.2 breakend notation
- Issue's with Native Build and Boost
- Format error in vcf line: HOT 3
- [BUG] Error adding alt from insertion sequence representing a duplication
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from paragraph.