Genome dark zones.
There’s nothing shadowy going on in the dark regions of our genomes. They are “dark” because they haven’t been either entirely or correctly sequenced.
The current and most common sequencing method is the problem. It’s fast, cheap, and good at finding point mutations and common variants. But the method, called “short-read,” sequences only short stretches of DNA. And, the pieces aren’t always reassembled in the correct order. Plus, it can’t parse long, repetitive sequences and large, duplicated chunks that can hide disease-causing variants.
New, long-read sequencing gives more insight into the complex areas of the genome. It reads a single molecule rather than breaking the sequence into small pieces for reassembly. It can reveal “camouflaged” genes that haven’t been fully sequenced as well as untangle long, repetitive stretches.
The article from Frontiers in Genetics, Long-Read Sequencing Emerging in Medical Genetics, dives into the future promise of long-read tech “to enable the next major advancements in medical genetics.”