Country for PR: United Kingdom
Contributor: PR Newswire Europe
Friday, January 25 2019 - 06:44
deCODE Publishes the First Full Resolution Genetic Map of the Human Genome
REYKJAVIK, Iceland, January 25, 2019 /PRNewswire-AsiaNet/ --

     A whole genome sequence-based portrait of how the two basic mechanisms 
generating human diversity work.

    Elucidates how women and men contribute differently to diversity; how the 
genome promotes and regulates diversity; and the link between the generation of 
diversity and rare disease.

    Scientists at deCODE genetics in Iceland, a subsidiary of Amgen, today 
publish the first genetic map of the human genome developed using whole-genome 
sequence data. The map provides the most detailed view to date of the location, 
rate and connection between two key drivers of human evolution: recombination - 
the reshuffling of the genome that occurs in the formation of eggs and sperm; 
and de novo mutation - the appearance in every one of our genomes of dozens of 
usually small variations that we did not inherit from either of our parents. 
Together these processes guarantee that every person is a unique version of our 
species, but de novo mutations are also a principal cause of rare diseases of 
childhood. The study appears today in the online edition of Science 



    This paper presents the latest genetic map of the genome developed by 
deCODE using its unique population genetics resources in Iceland and made 
available to the scientific community. The first, published in 2002 with 6000 
microsatellite markers, was instrumental in correctly assembling the first 
reference genome. In 2010, coinciding with the launch of the first commercial 
whole-genome sequencing machines, deCODE used 300,000 markers to create a more 
detailed map to guide the analysis of this new type of data. Today's study 
draws on sequence data from some 150,000 Icelanders from multiple generations, 
comprising nearly half the population and yielding the precise location of 4.5 
million crossover recombinations and more than 200,000 de novo mutations.

    "Over the past twenty years we have been committed to studying and 
publishing on de novo mutation and recombination and their relevance to human 
evolution and disease. We have done this both because it is of fundamental 
interest to understand more about who we are as a species, and because here in 
Iceland we have unique resources to address these questions and their relevance 
to health and medicine," said Kari Stefansson, CEO of deCODE and an author on 
the paper.

    "The classic premise of evolution is that it is powered first by random 
genetic change. But we see here in great detail how this process is in fact 
systematically regulated - by the genome itself and by the fact that 
recombination and de novo mutation are linked. We have identified 35 sequence 
variants affecting recombination rate and location, and show that de novo 
mutations are more than fifty times more likely at recombination sites than 
elsewhere in the genome. Furthermore, women contribute far more to 
recombination and men to de novo mutation, and it is the latter that comprise a 
major source of rare diseases of childhood. What we see here is that the genome 
is an engine for generating diversity within certain bounds. This is clearly 
beneficial to the success of our species but at great cost to some individuals 
with rare diseases, which are therefore a collective responsibility we must 
strive to address," Dr Stefansson concluded.

    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: Edward Farmer +354-863-1923

Source: deCODE genetics