Bob Dolin

Sorry, let me include an example. Here is an example where these two VCF rows could potentially be 'composed' into an MNV in order to obtain a more accurate molecular...

Doesn't PRECISE/IMPRECISE achieve what INFO.SVBKPT would? (Although I've seen examples that are both PRECISE and have CIPOS and CIEND, which I find confusing). And on a tangent, what is the...

Hi, Most of the folks on this thread are YEARS ahead of me in understanding the nuances of SVs, so I hope folks can bear with me for a bit...

I'm experiencing the same problem I think. I'm using a CRAM file from Nebula. I converted CRAM to BAM: `samtools view -b -T GCA_000001405.15_GRCh38_no_alt_analysis_set.fna.gz -o NB6TK328_chr6.bam NB6TK328.cram chr6` then indexed...

Quick follow up to my question above - the problem was that the docker container couldn't access files outside the container. I revised the syntax to this, which worked: `sudo...

See also biostars discussion (https://www.biostars.org/p/9529677/), where, in absence of ability of SnpSift to revise field name upon annotation, the suggestion is to use bcftools annotate --rename-annot to rename the field...

Let's defer this one for now - currently, none of the haplotype data in the reference implementation has genomicSourceClass populated, so tightening this logic might be confusing (e.g. searching specifically...

@fatemaker254 Please see the comment we just added to issue #48

@Rohan-cod Absolutely. Give me a day or two to put together some reading material that will describe this issue in more detail.