A new genome sequencing technology from Silicon Valley-based Complete Genomics has been shown to be dramatically more accurate, allows rapid detection of whether two disease-associated variants are on the same or different parental chromosomes, and uses a smaller DNA sample than any other system, according to a study published in Nature.
So-called Long Fragment Read (LFR) technology, invented by the company founder Dr. Clifford Reid, relies on attaching “barcode adapters” that help identify which DNA strand the sequence is coming from. This will allow researchers and clinicians to obtain fully-phased genomes and better understand and diagnose genetic diseases.
From Complete Genomics’ announcement:
Until now, determining whether two disease-associated variants were on the same or different parental chromosomes was either impossible or required expensive, low-throughput technologies — an approach often infeasible in a clinical environment. Complete’s new LFR technology not only enables an accurate identification of mutations, but includes phasing that shows which mutations are in fact together on the same parental chromosome. Through phasing, a physician can determine whether a patient with two pathogenic variants in a gene including its regulatory regions is affected or merely a carrier of the trait. In addition, Complete’s LFR technology provides, for the first time, accurate whole-genome sequencing from as few as 10 to 20 cells (only 100 picograms of DNA), making it an ideal choice for small sample clinical sequencing applications including circulating tumor cells, fine needle aspirations, and pre-implantation genetic diagnostics.
Open access article in Nature: Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells