oddly enough I just was looking at someone's data with chr13:20189491 A>G (gnomAD genomes v4 AF=0.00941) - also 0/1 genotype.
I used WGS from Nebula - but would like to back that up with Nanopore raw DNA reads targeted on specific genes where I need more accuracy and to investigate structural differences that Illumina or Nebula's MGI machines can't pick up... also for the additional methylation data.
I used WGS from Nebula - but would like to back that up with Nanopore raw DNA reads targeted on specific genes where I need more accuracy and to investigate structural differences that Illumina or Nebula's MGI machines can't pick up... also for the additional methylation data.