deCODE genetics - Rounding off the human genome
In a study published today, scientists at deCODE Genetics demonstrate for the first time
how
long-read DNA sequencing can be applied at population scale to unravel large structural variants that associate with human disease and other traits.
In a paper published today in Nature genetics, scientists at deCODE genetics, a subsidiary of the pharmaceutical company Amgen, have shown that long-read DNA sequencing can be applied at population scale to unravel large structural variants that associate with human disease and other traits. Up until now DNA sequence analysis has been performed using short-read sequencing, where the sequence examined is broken up into fragments that are no more than 151 base pairs. Using short-read sequencing scientists have been able to discern most small variations in the genome and population studies have allowed them to determine how they associate with diseases and other traits. However of 133,886 reliably