Hello there, I've been tasked to LD-prune a set of variants that my group is interested in. Our data is human WES, and it is …

Hello, sequencing the GBA1 gene is important in hereditary Parkinson's disease research. Just upstream of GBA1 is a pseudogene GBAP1 with 90+ % sequence identity. …

Hello, while reading GATK's article here: https://gatk.broadinstitute.org/hc/en-us/articles/360035531112--How-to-Filter-variants-either-with-VQSR-or-by-hard-filtering ... they helpfully supply some default tranch values and suches for WGS data. They say that for WES …

Hello, I have 12 WGS samples that are part of a big pedigree, I need to pinpoint genomic regions ~1 Mbp that are identical between …

Hello! I'm just getting acquainted with softwares that phase variant calls. I tried SHAPEIT2, and am planning to try Beagle and SHAPEIT4. I'm working with …

Hello! I've been tasked to perform linkage analysis on some data we'll soon be receiving. I've never done this before, to my knowledge at least, …

Hello, I'm wondering if there is a program out there that transforms a bam file (and a reference genome file) into a Sanger-like plot, e.g. …

Hello! My supervisor is requesting STR expansion analysis on our NGS data. I've looked into ExpansionHunter, developed by Illumina, but it only works, allegedly, on …

Hello! I googled but found only issues of RNA read quantification, which is fair enough but not the help I would like. I'm just curious …

Hello! I have a list of RefSeq accession numbers of mRNA transcripts, all from homo sapiens, and would like to, for each transcript, get the …