Literature DB >> 22736453

Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain.

George P Patrinos1, David N Cooper, Erik van Mulligen, Vassiliki Gkantouna, Giannis Tzimas, Zuotian Tatum, Erik Schultes, Marco Roos, Barend Mons.   

Abstract

The advances in bioinformatics required to annotate human genomic variants and to place them in public data repositories have not kept pace with their discovery. Moreover, a law of diminishing returns has begun to operate both in terms of data publication and submission. Although the continued deposition of such data in the public domain is essential to maximize both their scientific and clinical utility, rewards for data sharing are few, representing a serious practical impediment to data submission. To date, two main strategies have been adopted as a means to encourage the submission of human genomic variant data: (1) database journal linkups involving the affiliation of a scientific journal with a publicly available database and (2) microattribution, involving the unambiguous linkage of data to their contributors via a unique identifier. The latter could in principle lead to the establishment of a microcitation-tracking system that acknowledges individual endeavor and achievement. Both approaches could incentivize potential data contributors, thereby encouraging them to share their data with the scientific community. Here, we summarize and critically evaluate approaches that have been proposed to address current deficiencies in data attribution and discuss ways in which they could become more widely adopted as novel scientific publication modalities.
© 2012 Wiley Periodicals, Inc.

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Year:  2012        PMID: 22736453     DOI: 10.1002/humu.22144

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  31 in total

Review 1.  Text-mining solutions for biomedical research: enabling integrative biology.

Authors:  Dietrich Rebholz-Schuhmann; Anika Oellrich; Robert Hoehndorf
Journal:  Nat Rev Genet       Date:  2012-11-14       Impact factor: 53.242

2.  Free the Data.

Authors:  Katherine Lambertson; Sharon F Terry
Journal:  Genet Test Mol Biomarkers       Date:  2014-01

3.  Open Targets: a platform for therapeutic target identification and validation.

Authors:  Gautier Koscielny; Peter An; Denise Carvalho-Silva; Jennifer A Cham; Luca Fumis; Rippa Gasparyan; Samiul Hasan; Nikiforos Karamanis; Michael Maguire; Eliseo Papa; Andrea Pierleoni; Miguel Pignatelli; Theo Platt; Francis Rowland; Priyanka Wankar; A Patrícia Bento; Tony Burdett; Antonio Fabregat; Simon Forbes; Anna Gaulton; Cristina Yenyxe Gonzalez; Henning Hermjakob; Anne Hersey; Steven Jupe; Şenay Kafkas; Maria Keays; Catherine Leroy; Francisco-Javier Lopez; Maria Paula Magarinos; James Malone; Johanna McEntyre; Alfonso Munoz-Pomer Fuentes; Claire O'Donovan; Irene Papatheodorou; Helen Parkinson; Barbara Palka; Justin Paschall; Robert Petryszak; Naruemon Pratanwanich; Sirarat Sarntivijal; Gary Saunders; Konstantinos Sidiropoulos; Thomas Smith; Zbyslaw Sondka; Oliver Stegle; Y Amy Tang; Edward Turner; Brendan Vaughan; Olga Vrousgou; Xavier Watkins; Maria-Jesus Martin; Philippe Sanseau; Jessica Vamathevan; Ewan Birney; Jeffrey Barrett; Ian Dunham
Journal:  Nucleic Acids Res       Date:  2016-11-29       Impact factor: 16.971

4.  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

5.  Preserving sequence annotations across reference sequences.

Authors:  Zuotian Tatum; Marco Roos; Andrew P Gibson; Peter Em Taschner; Mark Thompson; Erik A Schultes; Jeroen Fj Laros
Journal:  J Biomed Semantics       Date:  2014-06-03

6.  Repository of mutations from Oman: The entry point to a national mutation database.

Authors:  Anna Rajab; Nishath Hamza; Salma Al Harasi; Fatma Al Lawati; Una Gibbons; Intesar Al Alawi; Karoline Kobus; Suha Hassan; Ghariba Mahir; Qasim Al Salmi; Barend Mons; Peter Robinson
Journal:  F1000Res       Date:  2015-09-23

Review 7.  RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.

Authors:  Rachel Thompson; Louise Johnston; Domenica Taruscio; Lucia Monaco; Christophe Béroud; Ivo G Gut; Mats G Hansson; Peter-Bram A 't Hoen; George P Patrinos; Hugh Dawkins; Monica Ensini; Kurt Zatloukal; David Koubi; Emma Heslop; Justin E Paschall; Manuel Posada; Peter N Robinson; Kate Bushby; Hanns Lochmüller
Journal:  J Gen Intern Med       Date:  2014-08       Impact factor: 5.128

8.  Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Authors:  Bryony A Thompson; Amanda B Spurdle; John-Paul Plazzer; Marc S Greenblatt; Kiwamu Akagi; Fahd Al-Mulla; Bharati Bapat; Inge Bernstein; Gabriel Capellá; Johan T den Dunnen; Desiree du Sart; Aurelie Fabre; Michael P Farrell; Susan M Farrington; Ian M Frayling; Thierry Frebourg; David E Goldgar; Christopher D Heinen; Elke Holinski-Feder; Maija Kohonen-Corish; Kristina Lagerstedt Robinson; Suet Yi Leung; Alexandra Martins; Pal Moller; Monika Morak; Minna Nystrom; Paivi Peltomaki; Marta Pineda; Ming Qi; Rajkumar Ramesar; Lene Juel Rasmussen; Brigitte Royer-Pokora; Rodney J Scott; Rolf Sijmons; Sean V Tavtigian; Carli M Tops; Thomas Weber; Juul Wijnen; Michael O Woods; Finlay Macrae; Maurizio Genuardi
Journal:  Nat Genet       Date:  2013-12-22       Impact factor: 38.330

9.  Updates of the HbVar database of human hemoglobin variants and thalassemia mutations.

Authors:  Belinda Giardine; Joseph Borg; Emmanouil Viennas; Cristiana Pavlidis; Kamran Moradkhani; Philippe Joly; Marina Bartsakoulia; Cathy Riemer; Webb Miller; Giannis Tzimas; Henri Wajcman; Ross C Hardison; George P Patrinos
Journal:  Nucleic Acids Res       Date:  2013-10-16       Impact factor: 16.971

10.  Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Authors:  Patrick R Sosnay; Karen R Siklosi; Fredrick Van Goor; Kyle Kaniecki; Haihui Yu; Neeraj Sharma; Anabela S Ramalho; Margarida D Amaral; Ruslan Dorfman; Julian Zielenski; David L Masica; Rachel Karchin; Linda Millen; Philip J Thomas; George P Patrinos; Mary Corey; Michelle H Lewis; Johanna M Rommens; Carlo Castellani; Christopher M Penland; Garry R Cutting
Journal:  Nat Genet       Date:  2013-08-25       Impact factor: 38.330

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