Using conceptual modeling to improve genome data management.

Briefings in Bioinformatics
Óscar PastorJuan Carlos Rodenas Casamayor

Abstract

With advances in genomic sequencing technology, a large amount of data is publicly available for the research community to extract meaningful and reliable associations among risk genes and the mechanisms of disease. However, this exponential growth of data is spread in over thousand heterogeneous repositories, represented in multiple formats and with different levels of quality what hinders the differentiation of clinically valid relationships from those that are less well-sustained and that could lead to wrong diagnosis. This paper presents how conceptual models can play a key role to efficiently manage genomic data. These data must be accessible, informative and reliable enough to extract valuable knowledge in the context of the identification of evidence supporting the relationship between DNA variants and disease. The approach presented in this paper provides a solution that help researchers to organize, store and process information focusing only on the data that are relevant and minimizing the impact that the information overload has in clinical and research contexts. A case-study (epilepsy) is also presented, to demonstrate its application in a real context.

References

Sep 12, 2000·Bioinformatics·N W PatonS G Oliver
Dec 26, 2001·Human Mutation·Celeste M ConditEnid Sefcovic
May 17, 2005·Genome Biology·Karen EilbeckMichael Ashburner
Feb 6, 2007·Genome Biology·Steven L Salzberg
Jan 1, 2009·Human Genomics and Proteomics : HGP·Jemila S HamidJoseph Beyene
Feb 3, 2015·Methods : a Companion to Methods in Enzymology·Wilco W M Fleuren, Wynand Alkema
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Jul 16, 2015·BMC Medical Genomics·Roshan KarkiCristiano Ferlini
Feb 27, 2016·Human Mutation·Mauno VihinenPeter Taschner
Nov 27, 2018·Nucleic Acids Research·Sebastian KöhlerPeter N Robinson
Nov 28, 2018·Cold Spring Harbor Perspectives in Medicine·W Richard McCombieElaine R Mardis
Jan 11, 2019·Nucleic Acids Research·Daniel J Rigden, Xosé M Fernández
Dec 18, 2019·Clinical Chemistry·Linnea M BaudhuinRobert C Green

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