• SOURCE

    November 2016

    We are entering an era where the discovery of disease genes is conducted at the genome scale, and where integration of multiple types of ‘big data’ is used to elucidate variant-phenotype correlations. Additionally, a growing number of studies are identifying considerable overlap between common and rare human diseases, and further refining our understanding of their biology and the mechanisms by which they develop.

    Genome Biology highlights important advances in human disease genomics with a special issue showcasing important work in this area.

    1. RESEARCH

      Capture Hi-C identifies a novel causal gene, IL20RA, in the pan-autoimmune genetic susceptibility region 6q23

      The identification of causal genes from genome-wide association studies (GWAS) is the next important step for the translation of genetic findings into biologically meaningful mechanisms of disease and potentia…

      Amanda McGovern, Stefan Schoenfelder, Paul Martin, Jonathan Massey, Kate Duffus, Darren Plant, Annie Yarwood, Arthur G. Pratt, Amy E. Anderson, John D. Isaacs, Julie Diboll, Nishanthi Thalayasingam, Caroline Ospelt, Anne Barton, Jane Worthington, Peter Fraser…

      Genome Biology 2016 17:212

      Published on: 1 November 2016

    2. RESEARCH

      GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition

      Neuropsychiatric disorders are common forms of disability in humans. Despite recent progress in deciphering the genetics of these disorders, their phenotypic complexity continues to be a major challenge. Mende…

      Hanan E. Shamseldin, Ikuo Masuho, Ahmed Alenizi, Suad Alyamani, Dipak N. Patil, Niema Ibrahim, Kirill A. Martemyanov and Fowzan S. Alkuraya

      Genome Biology 2016 17:195

      Published on: 27 September 2016

    3. RESEARCH

      An integrated genetic-epigenetic analysis of schizophrenia: evidence for co-localization of genetic associations and differential DNA methylation

      Schizophrenia is a highly heritable, neuropsychiatric disorder characterized by episodic psychosis and altered cognitive function. Despite success in identifying genetic variants associated with schizophrenia,…

      Eilis Hannon, Emma Dempster, Joana Viana, Joe Burrage, Adam R. Smith, Ruby Macdonald, David St Clair, Colette Mustard, Gerome Breen, Sebastian Therman, Jaakko Kaprio, Timothea Toulopoulou, Hilleke E. Hulshoff Pol, Marc M. Bohlken, Rene S. Kahn, Igor Nenadic…

      Genome Biology 2016 17:176

      Published on: 30 August 2016

     
     

    No comments

    Be the first one to leave a comment.

    Post a Comment


     

     

    Latest Posts

    Latest Video

     
     

    LATEST POSTS

    Self-assembling 3D printing inks produce more true-to-life tissue

    SOURCE Biological and chemical researchers are developing 3D printable inks capable of self-assembly, i.e. forming a shape based on a…

    Urine Exosomes – An Emerging Trove of Biomarkers

     SOURCE Exosomes are released by most cells and can be isolated from all biofluids including urine. Exosomes are small vesicles…

    What is machine learning?

    SOURCE In this fascinating animation from Oxford Sparks, we take a look at how statistics and computer science can be used to…

    Catalia Health uses social robots to improve health outcomes

    Credit: Catalia Health SOURCE Catalia Health is leading the surge in social robotics, with Mabu, their patient care management system. Catalia…

    Ambry Genetics’ Big Data Sharing Program Now Available for Public Download

    SOURCE (So, WHY is this important?  Sounds like good Hangout fodder for the person that wants to know!) January 19,…

    Big data serves patients and people in increasingly broad ways

    Personal Connected Health Alliance executive vice president Patty Mechael explains how genomics, fitness devices and other wearables are engaging people…

    The Long Quest To Create Artificial Blood May Soon Be Over

    A drop of blood drips off a needle. Image Source via Getty Images SOURCE Blood, blood everywhere — but not…

    ‘5-D protein fingerprinting’ with nanopores could give insights into Alzheimer’s, Parkinson’s

    SOURCE Jan 17, 2017 (Nanowerk News) In research that could one day lead to advances against neurodegenerative diseases like Alzheimer’s…