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REYKJAVIK, Iceland, May 11, 2021 /PRNewswire=KYODO JBN/ --

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.

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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 genotyped structural variants detected with long-read sequencing only

60% can be detected with short-reads.

Using PromethION sequencers from Oxford Nanopore Technologies, researchers at

deCODE genetics whole genome sequenced 3,622 Icelanders.  DNA base pairs in the

genome were sequenced on average at least 10 times, allowing for accurate

characterization of all genomic variation within the individual.  These

variants were then imputed into a larger set of participants in various disease

studies at deCODE genetics and associated with phenotypes. This has led to the

discovery of several hitherto unknown associations of structural variants with

diseases and other traits.

"This technology and algorithms we developed enable us to characterize almost

all structural variants reliably and consistently on a population scale," says

Bjarni V. Halldorsson, head of Sequence analysis, deCODE genetics.

The problem with short-read sequencing is that larger structural variants are

difficult to discern directly.  This is a major stumbling block in the attempt

to fully understand the relationship between variation in the sequence of the

human genome and human diversity. Due to their size, these large structural

variants usually have greater impact than the smaller variants most commonly

considered. Large structural variants frequently delete or insert whole genes

or large parts of genes, making them particularly harmful.

"We are confident that the long-read sequencing applied at population level is

going to help us to find much of the missing sequence diversity that we must

have to fully understand how diversity in the sequence of the genome accounts

for human diversity," says Kari Stefansson CEO and founder of deCODE genetics.

Based in Reykjavik, Iceland, deCODE is a global leader in analyzing and

understanding the human genome. Using its unique expertise and population

resources, deCODE has discovered genetic risk factors for dozens of common

diseases. The purpose of understanding the genetics of disease is to use that

information to create new means of diagnosing, treating and preventing disease.

deCODE is a wholly-owned subsidiary of Amgen (NASDAQ: AMGN).

Contact: Thora Kristin Asgeirsdottir

         PR and Communications

         deCODE genetics

         +00354-570-1909, +00354-894-1909

SOURCE:  deCODE genetics