Literature DB >> 25473437

Genomic data sharing for translational research and diagnostics.

Peter N Robinson1.   

Abstract

Translational genomics is changing, not only in the technology used but also in the sharing of data. The enormous potential for genomics technologies to improve patient care has been recognized, but it will not be reached unless powerful but secure data-sharing technologies are developed. A recent study demonstrates the power of federated queries, in which sequence variants can be searched simultaneously in files distributed over multiple centers.

Entities:  

Year:  2014        PMID： 25473437      PMCID： PMC4254431          DOI： 10.1186/s13073-014-0078-2

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


  9 in total

1.  Searching for missing heritability: designing rare variant association studies.

Authors:  Or Zuk; Stephen F Schaffner; Kaitlin Samocha; Ron Do; Eliana Hechter; Sekar Kathiresan; Mark J Daly; Benjamin M Neale; Shamil R Sunyaev; Eric S Lander
Journal:  Proc Natl Acad Sci U S A       Date:  2014-01-17       Impact factor: 11.205

Review 2.  Finding the missing heritability of complex diseases.

Authors:  Teri A Manolio; Francis S Collins; Nancy J Cox; David B Goldstein; Lucia A Hindorff; David J Hunter; Mark I McCarthy; Erin M Ramos; Lon R Cardon; Aravinda Chakravarti; Judy H Cho; Alan E Guttmacher; Augustine Kong; Leonid Kruglyak; Elaine Mardis; Charles N Rotimi; Montgomery Slatkin; David Valle; Alice S Whittemore; Michael Boehnke; Andrew G Clark; Evan E Eichler; Greg Gibson; Jonathan L Haines; Trudy F C Mackay; Steven A McCarroll; Peter M Visscher
Journal:  Nature       Date:  2009-10-08       Impact factor: 49.962

3.  A framework for variation discovery and genotyping using next-generation DNA sequencing data.

Authors:  Mark A DePristo; Eric Banks; Ryan Poplin; Kiran V Garimella; Jared R Maguire; Christopher Hartl; Anthony A Philippakis; Guillermo del Angel; Manuel A Rivas; Matt Hanna; Aaron McKenna; Tim J Fennell; Andrew M Kernytsky; Andrey Y Sivachenko; Kristian Cibulskis; Stacey B Gabriel; David Altshuler; Mark J Daly
Journal:  Nat Genet       Date:  2011-04-10       Impact factor: 38.330

4.  DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.

Authors:  Eugene Bragin; Eleni A Chatzimichali; Caroline F Wright; Matthew E Hurles; Helen V Firth; A Paul Bevan; G Jawahar Swaminathan
Journal:  Nucleic Acids Res       Date:  2013-10-22       Impact factor: 16.971

5.  NGS-Logistics: federated analysis of NGS sequence variants across multiple locations.

Authors:  Amin Ardeshirdavani; Erika Souche; Luc Dehaspe; Jeroen Van Houdt; Joris Robert Vermeesch; Yves Moreau
Journal:  Genome Med       Date:  2014-09-17       Impact factor: 11.117

6.  Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

Authors:  Jason O'Rawe; Tao Jiang; Guangqing Sun; Yiyang Wu; Wei Wang; Jingchu Hu; Paul Bodily; Lifeng Tian; Hakon Hakonarson; W Evan Johnson; Zhi Wei; Kai Wang; Gholson J Lyon
Journal:  Genome Med       Date:  2013-03-27       Impact factor: 11.117

7.  ClinVar: public archive of relationships among sequence variation and human phenotype.

Authors:  Melissa J Landrum; Jennifer M Lee; George R Riley; Wonhee Jang; Wendy S Rubinstein; Deanna M Church; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2013-11-14       Impact factor: 16.971

8.  The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Authors:  Sebastian Köhler; Sandra C Doelken; Christopher J Mungall; Sebastian Bauer; Helen V Firth; Isabelle Bailleul-Forestier; Graeme C M Black; Danielle L Brown; Michael Brudno; Jennifer Campbell; David R FitzPatrick; Janan T Eppig; Andrew P Jackson; Kathleen Freson; Marta Girdea; Ingo Helbig; Jane A Hurst; Johanna Jähn; Laird G Jackson; Anne M Kelly; David H Ledbetter; Sahar Mansour; Christa L Martin; Celia Moss; Andrew Mumford; Willem H Ouwehand; Soo-Mi Park; Erin Rooney Riggs; Richard H Scott; Sanjay Sisodiya; Steven Van Vooren; Ronald J Wapner; Andrew O M Wilkie; Caroline F Wright; Anneke T Vulto-van Silfhout; Nicole de Leeuw; Bert B A de Vries; Nicole L Washingthon; Cynthia L Smith; Monte Westerfield; Paul Schofield; Barbara J Ruef; Georgios V Gkoutos; Melissa Haendel; Damian Smedley; Suzanna E Lewis; Peter N Robinson
Journal:  Nucleic Acids Res       Date:  2013-11-11       Impact factor: 16.971

9.  Biological insights from 108 schizophrenia-associated genetic loci.

Authors: 
Journal:  Nature       Date:  2014-07-22       Impact factor: 49.962
  9 in total
  2 in total

1.  Experiences in supporting the structured collection of cancer nanotechnology data using caNanoLab.

Authors:  Stephanie A Morris; Sharon Gaheen; Michal Lijowski; Mervi Heiskanen; Juli Klemm
Journal:  Beilstein J Nanotechnol       Date:  2015-07-21       Impact factor: 3.649

2.  Implementing the FAIR Data Principles in precision oncology: review of supporting initiatives.

Authors:  Charles Vesteghem; Rasmus Froberg Brøndum; Mads Sønderkær; Mia Sommer; Alexander Schmitz; Julie Støve Bødker; Karen Dybkær; Tarec Christoffer El-Galaly; Martin Bøgsted
Journal:  Brief Bioinform       Date:  2020-05-21       Impact factor: 11.622
  2 in total

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