Literature DB >> 18988827

GENETICS. The Human Variome Project.

Richard G H Cotton1, Arleen D Auerbach, Myles Axton, Carol Isaacson Barash, Samuel F Berkovic, Anthony J Brookes, John Burn, Garry Cutting, Johan T den Dunnen, Paul Flicek, Nelson Freimer, Marc S Greenblatt, Heather J Howard, Michael Katz, Finlay A Macrae, Donna Maglott, Gabriela Möslein, Sue Povey, Rajkumar S Ramesar, Carolyn S Richards, Daniela Seminara, Timothy D Smith, María-Jesús Sobrido, Jan Helge Solbakk, Rudolph E Tanzi, Sean V Tavtigian, Graham R Taylor, Joji Utsunomiya, Michael Watson.   

Abstract

An ambitious plan to collect, curate, and make accessible information on genetic variations affecting human health is beginning to be realized.

Entities:  

Mesh：

Year:  2008        PMID： 18988827      PMCID： PMC2810956          DOI： 10.1126/science.1167363

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  5 in total

1.  What is the human variome project?

Authors: 
Journal:  Nat Genet       Date:  2007-04       Impact factor: 38.330

2.  Human Variome Project: an international collaboration to catalogue human genetic variation.

Authors:  Huijun Z Ring; Pui-Yan Kwok; Richard G H Cotton
Journal:  Pharmacogenomics       Date:  2006-10       Impact factor: 2.533

3.  LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

Authors:  Ivo F A C Fokkema; Johan T den Dunnen; Peter E M Taschner
Journal:  Hum Mutat       Date:  2005-08       Impact factor: 4.878

4.  The effect of Mendelian disease on human health: a measurement.

Authors:  T Costa; C R Scriver; B Childs
Journal:  Am J Med Genet       Date:  1985-06

5.  Recommendations of the 2006 Human Variome Project meeting.

Authors:  Richard G H Cotton; William Appelbe; Arleen D Auerbach; Kevin Becker; Walter Bodmer; D Joe Boone; Victor Boulyjenkov; Samir Brahmachari; Lawrence Brody; Anthony Brookes; Alastair F Brown; Peter Byers; Jose Maria Cantu; Jean-Jacques Cassiman; Mireille Claustres; Patrick Concannon; Richard G H Cotton; Johan T den Dunnen; Paul Flicek; Richard Gibbs; Judith Hall; Julia Hasler; Michael Katz; Pui-Yan Kwok; Sandrine Laradi; Annika Lindblom; Donna Maglott; Steven Marsh; Collen Muto Masimirembwa; Shinsei Minoshima; Ana Maria Oller de Ramirez; Roberta Pagon; Raj Ramesar; David Ravine; Sue Richards; David Rimoin; Huijun Z Ring; Charles R Scriver; Stephen Sherry; Nobuyoshi Shimizu; Lincoln Stein; Ghazi Omar Tadmouri; Graham Taylor; Michael Watson
Journal:  Nat Genet       Date:  2007-04       Impact factor: 38.330
  5 in total
  20 in total

1.  Call for participation in the neurogenetics consortium within the Human Variome Project.

Authors:  Andrea Haworth; Lars Bertram; Paola Carrera; Joanna L Elson; Corey D Braastad; Diane W Cox; Marc Cruts; Johann T den Dunnen; Matthew J Farrer; John K Fink; Sherifa A Hamed; Henry Houlden; Dennis R Johnson; Karen Nuytemans; Francesc Palau; Dipa L Raja Rayan; Peter N Robinson; Antonio Salas; Birgitt Schüle; Mary G Sweeney; Michael O Woods; Jorge Amigo; Richard G H Cotton; Maria-Jesus Sobrido
Journal:  Neurogenetics       Date:  2011-06-01       Impact factor: 2.660

Review 2.  Human genotype-phenotype databases: aims, challenges and opportunities.

Authors:  Anthony J Brookes; Peter N Robinson
Journal:  Nat Rev Genet       Date:  2015-11-10       Impact factor: 53.242

3.  A new disease-specific machine learning approach for the prediction of cancer-causing missense variants.

Authors:  Emidio Capriotti; Russ B Altman
Journal:  Genomics       Date:  2011-07-07       Impact factor: 5.736

Review 4.  Role of the Neuregulin Signaling Pathway in Nicotine Dependence and Co-morbid Disorders.

Authors:  Miranda L Fisher; Anu Loukola; Jaakko Kaprio; Jill R Turner
Journal:  Int Rev Neurobiol       Date:  2015-09-16       Impact factor: 3.230

Review 5.  Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation.

Authors:  Haiming Tang; Paul D Thomas
Journal:  Genetics       Date:  2016-06       Impact factor: 4.562

6.  Annotating DNA variants is the next major goal for human genetics.

Authors:  Garry R Cutting
Journal:  Am J Hum Genet       Date:  2014-01-02       Impact factor: 11.025

7.  Revisiting DARPP-32 in postmortem human brain: changes in schizophrenia and bipolar disorder and genetic associations with t-DARPP-32 expression.

Authors:  Y Kunii; T M Hyde; T Ye; C Li; B Kolachana; D Dickinson; D R Weinberger; J E Kleinman; B K Lipska
Journal:  Mol Psychiatry       Date:  2013-01-08       Impact factor: 15.992

Review 8.  Evolutionary molecular medicine.

Authors:  Randolph M Nesse; Detlev Ganten; T Ryan Gregory; Gilbert S Omenn
Journal:  J Mol Med (Berl)       Date:  2012-04-29       Impact factor: 4.599

9.  DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms.

Authors:  Kenji Nakata; Barbara K Lipska; Thomas M Hyde; Tianzhang Ye; Erin N Newburn; Yukitaka Morita; Radhakrishna Vakkalanka; Maxim Barenboim; Yoshitatsu Sei; Daniel R Weinberger; Joel E Kleinman
Journal:  Proc Natl Acad Sci U S A       Date:  2009-09-02       Impact factor: 11.205

10.  Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.

Authors:  Melika Mozaffari; Marianne Hoogeveen-Westerveld; David Kwiatkowski; Julian Sampson; Rosemary Ekong; Sue Povey; Johan T den Dunnen; Ans van den Ouweland; Dicky Halley; Mark Nellist
Journal:  BMC Med Genet       Date:  2009-09-11       Impact factor: 2.103
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