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https://github.com/ga4gh-beacon/specification/pull/256 added a new property called `mateName` as a parameter to a variant query. Is this new feature incomplete? Should `mateName` be paired up with a c…
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Hi there,
Thank you for this easy to use and well-maintained tool.
I have a question about plotting height/ score.
For reference, I am plotting the breakpoints of structural variants and usin…
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Hi,
This is continued discussion of Python3 at the end of #528 which is about Python2.
I summary pros and cons dicussed in #528 and important features in official What's new in Python 3.X
Python…
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In VCF 4.2, p. 11 http://samtools.github.io/hts-specs/VCFv4.2.pdf
there is the following example:
# CHROM POS ID REF ALT … INFO …
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Hello,
I've noticed that some variants are reported as PRECISE and with a PASS filter but when taking a look at the alignment in the IGV the position reported is wrong in comparison to the actual p…
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One major theme raised in #234 is the question of "how do we handle Allele normalization when the Allele Location is specified by Ranges"? To me, these have always seemed to be a shorthand for "I did …
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Hello
I am looking at adding GRIDSS to parliament, but it appears that survivor does not support GRIDSS output. AFAIK, GRIDSS is fully compliant with VCFv4.3 but there are a number of issues I've e…
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Hello,
I have a problem understanding the results. I have already looked in the Wiki under the Bedpe Brass notations, but I didn't understand it.
My problem:
The breakpoints of the lower and …
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Hi @J35P312
I am trying to identify SV (translocations mainly) in patients with know translocations. I am setting up the pipeline with a patient with t(14:18) and I have a single-cell bam file (2000…
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I have an application with lazy loaded module.
I set up my application like describe in the installation documentation. ( *TranslocoRootModule is imported in my AppModule* ) and I have a assets fol…