ExpansionHunter
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Illumina
A tool for estimating repeat sizes
Hi, I am trying to use ExHdn calls as a catalog for ExH by manually converting the output json file to make it fit into ExH catalog format. However for...
I am building EH from source following the steps listed on the [installation page](https://github.com/Illumina/ExpansionHunter/blob/master/docs/02_Installation.md). I get the following error when building EH. ```shell $ git clone https://github.com/Illumina/ExpansionHunter $ cd ExpansionHunter/...
Would it be possible to detect CAT interruptions in ATN1 with the current methodology?
Instead of requiring the index to be named prefix.bam/.cram + index extension, this pull request allows for the index to be named prefix + index extension. I've essentially just removed...
Thank you so much for developing this valuable tool! I got an error during the run with expansionhunter/4.0.2 and a .cram file, saying that it failed to read index of...
Dear author: Thanks for your excellent software. When I use ExpansionHunter v5.0 with [A genome-wide STR catalog](https://github.com/Illumina/RepeatCatalogs)], I feel confused with the vcf output. Some results are like this:(./.:.:.:.:.:.:.:.), so...
When mates mismap to the same remote region of the genome, group them into intervals that can be fetched in a single I/O operation to improve I/O speed.
This pull request will -Introduce the targeted CNV calling workflow
When using a VCF generated by EH in tools such as `bcftools` they warn/error on contig information missing from the VCF header: ``` [W::vcf_parse] Contig 'chr1' is not defined in...