PR97093

REYKJAVIK, Iceland, July 20, 2022 /PRNewswire=KYODO JBN/ --

Scientists at deCODE genetics a subsidiary of Amgen together with collaborators

from Denmark report on the whole genome sequences of 150 thousand participants

in the UK biobank in a paper published in the journal Nature today.

This is the first report from the largest whole genome sequencing effort to

date where scientists from deCODE genetics and from the Wellcome Trust Sanger

Institute are set to sequence 500 thousand whole genomes in three years.

The scientists at deCODE genetics found 600 millions SNPs and indels in these

150 thousand genomes corresponding to 7% of those that can theoretically occur

in the human genome. It is however likely that some of the theoretically

possible variants are incompatible with life.

This large dataset allowed the scientists to separate regions that are tolerant

to large diversity in sequence from those that are not. The assumption is that

regions that are intolerant to sequence diversity are important to human

survival and procreation. It has long been held that coding exons are the

regions most important to human survival. However, when the 1% of the genome

with sequences that are best conserved are examined only 13% of them are coding

exons.

"Data of this type and quantity are going to revolutionize our ability to

identify and characterize intergenic sequences of importance to human

diversity, be it to risk of disease and response to treatment or some other

attributes," said Kari Stefansson the founder of deCODE and one of the authors

of the paper.

Furthermore, scientists at deCODE also report on the association of variants

that were not identified through whole exome sequencing with diseases and other

phenotypes.

Participants in the UK biobank are of diverse genetic ancestry and have

forefathers from most of the countries of the world. The scientists determined

that 85% of the participants could trace most of their ancestry to the British

Isles. The scientists also found a large group of participants who can trace

their ancestry mostly to Africa and South Asia. This study is likely to

represent the largest set of whole genome sequenced individuals of African and

South-Asian origin. However, the imbalance in the ethnic mix of those

contributing sequences to this study as well as to other studies already

published is unfortunate from both societal and scientific point of views.

Scientists at deCODE genetics are determined to work towards more ethnically

balanced sequencing cohorts in the future.

Data from this study are available to qualified researchers at the UK biobank

research analysis platform. SNP and indel frequency data are available at

decaf.decode.com allowing for identification of clinically important sequence

variants.

Contact:

Thora Kristin Asgeirsdottir

thoraa@decode.is

+354 894 1909

deCODE genetics

Video: https://vimeo.com/727850884/4054e3345e

Photo - https://mma.prnewswire.com/media/1862596/deCODE_genetics.jpg

Logo - https://mma.prnewswire.com/media/1535464/deCODE_genetics_Amgen_Logo.jpg

Source: deCODE genetics