I used your ExpansionHunter software, and I get two different results on one of my samples depending on the analysis mode I choose. I am looking for the 4G2C pattern in the C9ORF72 locus. Using the streaming mode, I get a 62/62 genotyping while for the seeking mode I get 25/395. Note that the sample was sequenced by the Illumina platform in WGS and that I used the variant catalog provided by ExpansionHunter. Do you have an explanation for this discrepancy in results ?
Hello,
I used your ExpansionHunter software, and I get two different results on one of my samples depending on the analysis mode I choose. I am looking for the 4G2C pattern in the C9ORF72 locus. Using the streaming mode, I get a 62/62 genotyping while for the seeking mode I get 25/395. Note that the sample was sequenced by the Illumina platform in WGS and that I used the variant catalog provided by ExpansionHunter. Do you have an explanation for this discrepancy in results ?
Thank you.