Navigation Links
Functional genetic variation in humans: Comprehensive map published
Date:9/15/2013

European scientists, led by researchers from the University of Geneva (UNIGE)'s Faculty of Medicine in the context of the GEUVADIS project, today present a map that points to the genetic causes of differences between people. The study, published in Nature and Nature Biotechnology, offers the largest-ever dataset linking human genomes to gene activity at the level of RNA.

Understanding how each person's unique genome makes them more or less susceptible to disease is one of the biggest challenges in science today. Geneticists study how different genetic profiles affect how certain genes are turned on or off in different people, which could be the cause of a number of genetic disorders.

Largest-ever human RNA sequencing study

Today's study, conducted by over 50 scientists from nine European institutes, measured gene activity (i.e. gene expression) by sequencing RNA in human cells from 462 individuals, whose full genome sequences had already been published as part of the 1000 Genomes Project. This study adds a functional interpretation to the most important catalogue of human genomes.

'The richness of genetic variation that affects the regulation of most of our genes surprised us,' says study coordinator Tuuli Lappalainen, previously at UNIGE and now at Stanford University. 'It is important that we figure out the general laws of how the human genome works, rather than just delving into individual genes.' The biological discovery was enabled by a staggering amount of RNA data from multiple human populations. 'We have set new standards for production, analysis and dissemination of large RNA-sequencing datasets,' adds Peter 't Hoen from Leiden University Medical Center, who coordinated technical analysis of the data.

A boost for personalised medicine

Knowing which genetic variants are responsible for differences in gene activity among individuals can give powerful clues for diagnosis, prognosis and intervention of different diseases. Senior author Emmanouil Dermitzakis, Louis Jeantet Professor at UNIGE, who led the study, emphasises that today's study has profound implications for genomic medicine.

'Understanding the cellular effects of disease-predisposing variants helps us understand causal mechanisms of disease,' professor Dermitzakis points out. 'This is essential for developing treatments in the future.'

A rich data resource for genetics community

All the data of the study are freely available though the ArrayExpress functional genomics archive at EMBL-EBI, led by Alvis Brazma who is part of the GEUVADIS analysis group. Open access to data and results allows independent researches to explore and re-analyse the data in different ways.

The GEUVADIS (Genetic European Variation in health and Disease) project, funded by the European Commission's FP7 programme, is led by Professor Xavier Estivill of the Center of Genomic Regulation (CRG) in Barcelona. 'We have created a valuable resource for the international human genomics community' says Dr. Estivill. 'We want other scientists to use our data, too.'


'/>"/>

Contact: Emmanouil Dermitzakis
emmanouil.dermitzakis@unige.ch
41-788-827-922
Universit de Genve
Source:Eurekalert

Related biology news :

1. Ordinary skin cells morphed into functional brain cells
2. Renewed Harvard-BASF initiative to advance functional materials
3. Beyond base pairs: Mapping the functional genome
4. Has modern science become dysfunctional?
5. Better sharing of genetic information in human health
6. African-American study identifies 4 genetic variants associated with blood pressure
7. Early-onset Parkinsons disease linked to genetic deletion
8. Researchers uncover genetic cause of childhood leukemia
9. Genetics Society of America joins editorial partnership for CBE-Life Sciences Education
10. Peering into genetic defects, CU scientists discover a new metabolic disease
11. Genetics society and cell biologists partner for life sciences education journal
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/30/2017)... March 30, 2017  On April 6-7, 2017, Sequencing.com ... Genome hackathon at Microsoft,s headquarters in ... will focus on developing health and wellness apps that ... Hack the Genome is the first hackathon for ... world,s largest companies in the genomics, tech and health ...
(Date:3/29/2017)... March 29, 2017  higi, the health IT company ... North America , today announced a Series ... acquisition of EveryMove. The new investment and acquisition accelerates ... tools to transform population health activities through the collection ... higi collects and secures data today on ...
(Date:3/24/2017)... 2017 The Controller General of Immigration from Maldives ... Algeen have received the prestigious international IAIR Award for the most ... Reading ... Maldives ... Abdulla Algeen (small picture on the right) have received the IAIR award ...
Breaking Biology News(10 mins):
(Date:8/21/2017)... (PRWEB) , ... August 21, 2017 , ... ... Healthcare Edition 2017. The awards recognize medical centers that have implemented innovative products, ... efficiency of patient care protocols, competitive advantages, financial impact/value, and market need. The ...
(Date:8/21/2017)... ... August 21, 2017 , ... Boston Strategic ... experience with Health Economics and Outcomes Research (HEOR) and ‘big data’ to provide ... US healthcare spending exceeded $3.0 trillion with nearly 1/3 spent on hospitalizations. BSP ...
(Date:8/21/2017)... (PRWEB) , ... August 21, 2017 , ... Today Aether ... a project, funded by a Bill and Melinda Gates Foundation grant, to ... Bill & Melinda Gates Foundation, also known as the Gates Foundation, is said to ...
(Date:8/18/2017)... Jose, CA (PRWEB) , ... August 18, 2017 ... ... advanced precision Lithography Equipment for the Semiconductor, MEMS, and Microfluidics Industries, announces the ... features and specifications found more often in automated production mask aligners. OAI has ...
Breaking Biology Technology: