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:6/30/2017)... , June 30, 2017 Today, ... developer and supplier of face and eye tracking ... Featured Product provider program. "Artificial ... innovative way to monitor a driver,s attentiveness levels ... from being able to detect fatigue and prevent ...
(Date:5/23/2017)... -- Hunova, the first robotic gym for the rehabilitation and functional motor sense ... Genoa, Italy . The first 30 robots will be available ... USA . The technology was developed and patented at the IIT ... Movendo Technology thanks to a 10 million euro investment from entrepreneur Sergio ... ...
(Date:5/6/2017)... , May 5, 2017 ... just announced a new breakthrough in biometric authentication ... exploits quantum mechanical properties to perform biometric authentication. These ... smart semiconductor material created by Ram Group and ... finance, entertainment, transportation, supply chains and security. Ram ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... , Oct. 11, 2017  VMS BioMarketing, a leading provider ... nationwide oncology Clinical Nurse Educator (CNE) network, which will launch ... for communication among health care professionals to enhance the patient ... office staff, and other health care professionals to help women ... cancer. ...
(Date:10/10/2017)... ... , ... San Diego-based team building and cooking events company, Lajollacooks4u, has unveiled ... bold new look is part of a transformation to increase awareness, appeal to new ... , It will also expand its service offering from its signature gourmet cooking classes ...
(Date:10/10/2017)... SomaGenics announced the receipt of a Phase ... (Single Cell), expected to be the first commercially available ... from single cells using NGS methods. The NIH,s recent ... development of approaches to analyze the heterogeneity of cell ... for measuring levels of mRNAs in individual cells have ...
(Date:10/9/2017)... (PRWEB) , ... October 09, 2017 , ... At its ... Dr. Christopher Stubbs, a professor in Harvard University’s Departments of Physics and Astronomy, has ... was a member of the winning team for the 2015 Breakthrough Prize in Fundamental ...
Breaking Biology Technology: