Egor Dolzhenko

Glad to hear it @lindenb! Thank you for the update

Thanks for the question! It looks like there is a mismatch between control BAMs and the provided reference (control BAMs have contig MT and the reference probably has contig chrM)....

This sounds great! The header of a Polaris BAM file should list the reference and the aligner that were used. (You can access the header using `samtools view -h` command.)

By the way, @mfbennett generated STR profiles for all Polaris samples from BAMs aligned with BWA-MEM to GRCh37 reference. If you don't mind realigning your samples using this aligner/reference combination,...

@katherinesmith, thank you very much for reporting the bug. Can I send you a compiled binary to confirm that the fix works and that there are no other issues related...

That would be great 👍

Hello Andrew, Thank you for the question. EHdn performs a relatively simple analysis by identifying and counting reads that are fully contained inside the repeat sequence. Although there is a...

Thanks for the questions Jaehyun! 1. No reason to use 40 other than convenience. We are essentially normalizing depth to 40x, which is pretty common for WGS data (if the...

Hi Jaehyun. Apologies for a late reply. Yes, comparing PCR-amplified (PCR+) and PCR-free (PCR-) data can be challenging because of the amplification biases in PCR+ data. I think restricting your...

Hi JaeHyun, Sorry for the slow replies. This looks like an interesting observation that would be useful to follow up on. We are currently working on a tool for automated...