Long-read sequencing enables the phasing of variants and reads, i.e., separating those into two parental haplotypes. Without trio information, you will not be able to say which variant is inherited from which parent, but you will know which variants were inherited together. And this matters, e.g., for compound heterozygous variants and cis-regulatory variation. Phasing can… Continue reading Announcing Phasius for visualization of phase blocks
go to blog