Literature DB >> 20193066

Collaboratively charting the gene-to-phenotype network of human congenital heart defects.

Roland Barriot1, Jeroen Breckpot, Bernard Thienpont, Sylvain Brohée, Steven Van Vooren, Bert Coessens, Leon-Charles Tranchevent, Peter Van Loo, Marc Gewillig, Koenraad Devriendt, Yves Moreau.   

Abstract

BACKGROUND: How to efficiently integrate the daily practice of molecular biologists, geneticists, and clinicians with the emerging computational strategies from systems biology is still much of an open question. DESCRIPTION: We built on the recent advances in Wiki-based technologies to develop a collaborative knowledge base and gene prioritization portal aimed at mapping genes and genomic regions, and untangling their relations with corresponding human phenotypes, congenital heart defects (CHDs). This portal is not only an evolving community repository of current knowledge on the genetic basis of CHDs, but also a collaborative environment for the study of candidate genes potentially implicated in CHDs - in particular by integrating recent strategies for the statistical prioritization of candidate genes. It thus serves and connects the broad community that is facing CHDs, ranging from the pediatric cardiologist and clinical geneticist to the basic investigator of cardiogenesis.
CONCLUSIONS: This study describes the first specialized portal to collaboratively annotate and analyze gene-phenotype networks. Of broad interest to the biological community, we argue that such portals will play a significant role in systems biology studies of numerous complex biological processes.CHDWiki is accessible at http://www.esat.kuleuven.be/~bioiuser/chdwiki.

Entities:  

Year:  2010        PMID: 20193066      PMCID: PMC2873794          DOI: 10.1186/gm137

Source DB:  PubMed          Journal:  Genome Med        ISSN: 1756-994X            Impact factor:   11.117


  28 in total

1.  Gene prioritization through genomic data fusion.

Authors:  Stein Aerts; Diether Lambrechts; Sunit Maity; Peter Van Loo; Bert Coessens; Frederik De Smet; Leon-Charles Tranchevent; Bart De Moor; Peter Marynen; Bassem Hassan; Peter Carmeliet; Yves Moreau
Journal:  Nat Biotechnol       Date:  2006-05       Impact factor: 54.908

2.  Key biology databases go wiki.

Authors:  Jim Giles
Journal:  Nature       Date:  2007-02-15       Impact factor: 49.962

3.  The human disease network.

Authors:  Kwang-Il Goh; Michael E Cusick; David Valle; Barton Childs; Marc Vidal; Albert-László Barabási
Journal:  Proc Natl Acad Sci U S A       Date:  2007-05-14       Impact factor: 11.205

4.  A human phenome-interactome network of protein complexes implicated in genetic disorders.

Authors:  Kasper Lage; E Olof Karlberg; Zenia M Størling; Páll I Olason; Anders G Pedersen; Olga Rigina; Anders M Hinsby; Zeynep Tümer; Flemming Pociot; Niels Tommerup; Yves Moreau; Søren Brunak
Journal:  Nat Biotechnol       Date:  2007-03       Impact factor: 54.908

5.  Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.

Authors:  Bernard Thienpont; Luc Mertens; Thomy de Ravel; Benedicte Eyskens; Derize Boshoff; Nicole Maas; Jean-Pierre Fryns; Marc Gewillig; Joris R Vermeesch; Koen Devriendt
Journal:  Eur Heart J       Date:  2007-03-23       Impact factor: 29.983

6.  De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

Authors:  Steven C Greenway; Alexandre C Pereira; Jennifer C Lin; Steven R DePalma; Samuel J Israel; Sonia M Mesquita; Emel Ergul; Jessie H Conta; Joshua M Korn; Steven A McCarroll; Joshua M Gorham; Stacey Gabriel; David M Altshuler; Maria de Lourdes Quintanilla-Dieck; Maria Alexandra Artunduaga; Roland D Eavey; Robert M Plenge; Nancy A Shadick; Michael E Weinblatt; Philip L De Jager; David A Hafler; Roger E Breitbart; Jonathan G Seidman; Christine E Seidman
Journal:  Nat Genet       Date:  2009-07-13       Impact factor: 38.330

7.  Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

Authors:  J D Karkera; J S Lee; E Roessler; S Banerjee-Basu; M V Ouspenskaia; J Mez; E Goldmuntz; P Bowers; J Towbin; J W Belmont; A D Baxevanis; A F Schier; M Muenke
Journal:  Am J Hum Genet       Date:  2007-09-28       Impact factor: 11.025

8.  Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations.

Authors:  Steven Van Vooren; Bernard Thienpont; Björn Menten; Frank Speleman; Bart De Moor; Joris Vermeesch; Yves Moreau
Journal:  Nucleic Acids Res       Date:  2007-04-01       Impact factor: 16.971

9.  Broad network-based predictability of Saccharomyces cerevisiae gene loss-of-function phenotypes.

Authors:  Kriston L McGary; Insuk Lee; Edward M Marcotte
Journal:  Genome Biol       Date:  2007       Impact factor: 13.583

10.  Integrating sequence and structural biology with DAS.

Authors:  Andreas Prlić; Thomas A Down; Eugene Kulesha; Robert D Finn; Andreas Kähäri; Tim J P Hubbard
Journal:  BMC Bioinformatics       Date:  2007-09-12       Impact factor: 3.169

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  12 in total

Review 1.  Computational tools for prioritizing candidate genes: boosting disease gene discovery.

Authors:  Yves Moreau; Léon-Charles Tranchevent
Journal:  Nat Rev Genet       Date:  2012-07-03       Impact factor: 53.242

2.  Human gene copy number spectra analysis in congenital heart malformations.

Authors:  Aoy Tomita-Mitchell; Donna K Mahnke; Craig A Struble; Maureen E Tuffnell; Karl D Stamm; Mats Hidestrand; Susan E Harris; Mary A Goetsch; Pippa M Simpson; David P Bick; Ulrich Broeckel; Andrew N Pelech; James S Tweddell; Michael E Mitchell
Journal:  Physiol Genomics       Date:  2012-02-07       Impact factor: 3.107

3.  Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.

Authors:  Kazutoyo Osoegawa; David M Iovannisci; Bin Lin; Christina Parodi; Kathleen Schultz; Gary M Shaw; Edward J Lammer
Journal:  Am J Med Genet A       Date:  2013-10-11       Impact factor: 2.802

4.  2010 translational bioinformatics year in review.

Authors:  Russ B Altman; Katharine S Miller
Journal:  J Am Med Inform Assoc       Date:  2011 Jul-Aug       Impact factor: 4.497

5.  Decoding the complex genetic causes of heart diseases using systems biology.

Authors:  Djordje Djordjevic; Vinita Deshpande; Tomasz Szczesnik; Andrian Yang; David T Humphreys; Eleni Giannoulatou; Joshua W K Ho
Journal:  Biophys Rev       Date:  2014-12-10

Review 6.  Genetic basis of congenital cardiovascular malformations.

Authors:  Seema R Lalani; John W Belmont
Journal:  Eur J Med Genet       Date:  2014-04-30       Impact factor: 2.708

7.  Haploinsufficiency of TAB2 causes congenital heart defects in humans.

Authors:  Bernard Thienpont; Litu Zhang; Alex V Postma; Jeroen Breckpot; Léon-Charles Tranchevent; Peter Van Loo; Kjeld Møllgård; Niels Tommerup; Iben Bache; Zeynep Tümer; Klaartje van Engelen; Björn Menten; Geert Mortier; Darrel Waggoner; Marc Gewillig; Yves Moreau; Koen Devriendt; Lars Allan Larsen
Journal:  Am J Hum Genet       Date:  2010-05-20       Impact factor: 11.025

8.  Transcriptional atlas of cardiogenesis maps congenital heart disease interactome.

Authors:  Xing Li; Almudena Martinez-Fernandez; Katherine A Hartjes; Jean-Pierre A Kocher; Timothy M Olson; Andre Terzic; Timothy J Nelson
Journal:  Physiol Genomics       Date:  2014-05-06       Impact factor: 3.107

Review 9.  Hierarchical approaches for systems modeling in cardiac development.

Authors:  Russell A Gould; Lina M Aboulmouna; Jeffrey D Varner; Jonathan T Butcher
Journal:  Wiley Interdiscip Rev Syst Biol Med       Date:  2013-03-05

10.  Rare variants in NR2F2 cause congenital heart defects in humans.

Authors:  Saeed Al Turki; Ashok K Manickaraj; Catherine L Mercer; Sebastian S Gerety; Marc-Phillip Hitz; Sarah Lindsay; Lisa C A D'Alessandro; G Jawahar Swaminathan; Jamie Bentham; Anne-Karin Arndt; Jacoba Louw; Jacoba Low; Jeroen Breckpot; Marc Gewillig; Bernard Thienpont; Hashim Abdul-Khaliq; Christine Harnack; Kirstin Hoff; Hans-Heiner Kramer; Stephan Schubert; Reiner Siebert; Okan Toka; Catherine Cosgrove; Hugh Watkins; Anneke M Lucassen; Ita M O'Kelly; Anthony P Salmon; Frances A Bu'lock; Javier Granados-Riveron; Kerry Setchfield; Chris Thornborough; J David Brook; Barbara Mulder; Sabine Klaassen; Shoumo Bhattacharya; Koen Devriendt; David F Fitzpatrick; David I Wilson; Seema Mital; Matthew E Hurles
Journal:  Am J Hum Genet       Date:  2014-04-03       Impact factor: 11.025

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