Closed ghost closed 4 months ago
Hi,
a TRGT VCF line contains multiple repeat motifs within the same allele, as shown below:
chr3 183712187 . CTTTTATTTTATTTTATTTTATTTTATTTTATTTTA CTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATGTTATTTTATGTTATTTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATTTTA 0 . TRID=YEATS2;END=183712222;MOTIFS=TTTCA,TTTTA,TGTTA,TTTTT;STRUC=<YEATS2> GT:AL:ALLR:SD:MC:MS:AP:AM 0/1:35,193:34-36,187-196:21,16:0_7_0_0,0_16_23_0:1(0-35),1(0-80)_2(80-193):1.000000,0.958974:.,.
I have a few questions regarding this:
Thank you!
Best regards, Mehmet Kaan
Hi @MKaandemir
Thanks for the help! I really appreciate it. Is Gnomad thinking about integrating long-read data?
Unfortunately no, I don't think there are plans right now.
Hi,
a TRGT VCF line contains multiple repeat motifs within the same allele, as shown below:
I have a few questions regarding this:
Thank you!
Best regards, Mehmet Kaan