Latest News
  • Transcriptome and genome sequencing uncovers functional variation in humans
    Lappalainen et al

     Our RNAseq experiment results  were published in Nature ! 

     See the press release:


    and dedicated web page:;jsessionid=DEF1FF33DE5BABF4A88084D4B0801239

  • Check-out our 10 GEUVADIS publications
    Gabrielle Bertier

     Go to our publication page

  • Results from a GEUVADIS study presented at the Genomes Network Conference in London
    Gabrielle Bertier, Jane Miller, Alexandra Soulier, Anne Cambon Thomsen

    Results from a study run within the GEUVADIS project on 'professional and family attitudes regarding large scale genomics studies were presented at the ESRC Genomics Network Conference entitled: Genomics in Society: Facts, Fictions and Cultures.

    See the notes from the session in the conference's blog.



  • Study Says Predictive Whole-Genome Sequencing Is Probably Not Very Useful
    Christie Rizk

     More information

  • Sequencing projects bring age-old wisdom to genomics
    Brendan Borrell


    Nature Medicine

    Published online
    More information
  • The new date, new format, new goals and new sponsor of the Archon Genomics X PRIZE Competition
    Larry Kedes & Grant Campany

    Nature Genetics

    Published online
    More information
  • We updated our project and project-related publication list. Feel free to have a look !

      We updated our project and project-related publication list. Feel free to have a look !

  • Listen to our podcast !

     You are confused about the project ? You want to know more about what we do in GEUVADIS ? Listen to our podcast, and let our coordinator answer your questions !

    Our PODCAST page

  • We are now on Facebook !

      You can follow our activities on the 'Geuvadis Consortium' group.

  • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    Mark A DePristo et al

    Author's abstract: Recent advances in sequencing technology make it possible to comprehensively catalog genetic variation in population samples, creating a foundation for understanding human disease, ancestry and evolution. The amounts of raw data produced are prodigious, and many computational steps are required to translate this output into high-quality variant calls. We present a unified analytic framework to discover and genotype variation among multiple samples simultaneously that achieves sensitive and specific results across five sequencing technologies and three distinct, canonical experimental designs. Our process includes (i) initial read mapping; (ii) local realignment around indels; (iii) base quality score recalibration; (iv) SNP discovery and genotyping to find all potential variants; and (v) machine learning to separate true segregating variation from machine artifacts common to next-generation sequencing technologies. We here discuss the application of these tools, instantiated in the Genome Analysis Toolkit, to deep whole-genome, whole-exome capture and multi-sample low-pass (~4×) 1000 Genomes Project datasets.

    Read More

  • Rare-disease project has global ambitions
    Alison Abbott

    Investigators from Europe and America have met in Bethesda on 6-8 April 2011 to define the framework of cooperation in order to elucidate the causes of most of over 7000 rare disorders and to achieve treatment for about 200 by 2020. See the statement of the IRDiRC consortium and the focus news in Nature.

    Read More

    Download IRDiRC Statement

  • More Geuvadis Press Releases

     Read our new Geuvadis Press Releases in our Press Room page !

  • Gene reading steps up a gear
    Heidi Ledford

    "It's super cool, but it's never going to work," genomics guru Eric Schadt responded when a wary investor asked for his opinion about a new DNA-sequencing technology in 2003. A company was creating a machine that it claimed could revolutionize the field by reading over the shoulder of an enzyme as it copied DNA molecules.

    Read more

  • New Press Releases

    Our project published new PRESS RELEASES. Read them from our Press Room page

  • Next-generation sequencing of the next generation
    Darren J. Burgess

    "There is great clinical demand for disease screening in utero using non-invasive techniques. A new study demonstrates the feasibility of genome-wide fetal genotyping using next-generation sequencing of the mother's blood."

    Read more

  • RNA sequencing: advances, challenges and opportunities
    Fatih Ozsolak and Patrice M. Milos

    "In the few years since its initial application, massively parallel cDNA sequencing, or RNA-seq, has allowed many advances in the characterization and quantification of transcriptomes. (...) Ongoing developments promise further advances in the application of RNA-seq, particularly direct RNA sequencing and approaches that allow RNA quantification from very small amounts of cellular materials.

    Read more

  • DNA sequencing for the masses
    Alla Katsnelson

    " The launch of a new technology marks a move towards small-scale sequencing in every lab. "

    Read More

  • Putting DNA to the test
    Nature Editorial

    "Genetic-testing companies lack regulation, and a list of guiding principles does not go far enough..."

    Read more

  • Genetics without borders
    Nature Editorial

    "Until a few years ago, the genetic variation of humans was understood only in terms of superficial characteristics, such as hair and skin colour. Today, thanks to the advent of cheap, fast genetic sequencing and DNA-microarray technologies, population geneticists can chart such variations in a more systematic way. Yet most experts agree that these studies are still in their infancy. [...] "

    Read more

  • Sharp focus on the variable Genome
    John A. L. Armour

    "What makes people different? Much of the answer comes from inherited differences, and interpreting the extensive variation between people’s genomes is a necessary part of understanding the human genome. Variation in the form of single base changes (single nucleotide polymorphisms, SNPs), and repetitive DNA, is already well documented. Adding an extra dimension to human genetic variation is the increasingly evident prevalence and functional importance of copy-number variation. [...] "

    Read more