How to deal with Haplotype data: An Extension to the Conceptual Schema of the Human Genome

The authors thanks to the members of the PROS Center Genome group for fruitful discussions. This work has been supported by the Ministry of Higher Education, Science and Technology (MESCyT) of the Dominican Republic, and It also has the support of Generalitat Valenciana through project IDEO (PROMETEOII/2014/039)

[1]  Peter J. Delves,et al.  Roitt. Inmunología. Fundamentos (11a edición) , 2008 .

[2]  Ignacio Lizasoain Hernández,et al.  Drogodependencias. Farmacología. Patología. Psicología. Legislación. , 2003 .

[3]  Tatiana Foroud,et al.  Candidate genes for alcohol dependence: a review of genetic evidence from human studies. , 2003, Alcoholism, clinical and experimental research.

[4]  Eulalia García Gutiérrez,et al.  Alcoholismo y sociedad, tendencias actuales , 2004 .

[5]  Pardis C Sabeti,et al.  Linkage disequilibrium in the human genome , 2001, Nature.

[6]  Tatiana Foroud,et al.  Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations. , 2004, American journal of human genetics.

[7]  Elizabeth M. Smigielski,et al.  dbSNP: the NCBI database of genetic variation , 2001, Nucleic Acids Res..

[8]  Amaya Ramírez,et al.  Análisis del haplotipo en portadores de la mutación 6857delAA en el gen BRCA2 en 4 familias con cáncer de mama u ovario hereditario , 2004 .

[9]  Núria Queralt-Rosinach,et al.  DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes , 2015, Database J. Biol. Databases Curation.

[10]  Philip Lijnzaad,et al.  The Ensembl genome database project , 2002, Nucleic Acids Res..

[11]  Oscar Pastor,et al.  Model-Driven Development , 2008, Informatik-Spektrum.

[12]  Wei Wei,et al.  Modeling the Semantics of 3D Protein Structures , 2004, ER.

[13]  John B. Shoven,et al.  I , Edinburgh Medical and Surgical Journal.

[14]  Oscar Pastor,et al.  Use of GeIS for Early Diagnosis of Alcohol Sensitivity , 2016, BIOINFORMATICS.

[15]  P. Donnelly,et al.  A new statistical method for haplotype reconstruction from population data. , 2001, American journal of human genetics.

[16]  Deanna M. Church,et al.  ClinVar: public archive of relationships among sequence variation and human phenotype , 2013, Nucleic Acids Res..

[17]  J. Trujillo,et al.  ETL Process Modeling Conceptual for Data Warehouses: A Systematic Mapping Study , 2011, IEEE Latin America Transactions.

[18]  Ana Maria,et al.  Wiki-Genome: A model-driven genome data management environment , 2012, 2012 Sixth International Conference on Research Challenges in Information Science (RCIS).

[19]  Roel Wieringa,et al.  Design Science Methodology for Information Systems and Software Engineering , 2014, Springer Berlin Heidelberg.

[20]  Kei-Hoi Cheung,et al.  ALFRED: an allele frequency database for diverse populations and DNA polymorphisms , 2000, Nucleic Acids Res..

[21]  Norman W. Paton,et al.  Conceptual data modelling for bioinformatics , 2002, Briefings Bioinform..

[22]  Oscar Pastor,et al.  Conceptual Modeling of Human Genome: Integration Challenges , 2012, Conceptual Modelling and Its Theoretical Foundations.

[23]  Brian T. Lee,et al.  The UCSC Genome Browser database: 2015 update , 2014, Nucleic Acids Res..

[24]  Lon Phan dbSNP and dbVar: NCBI Databases of Simple and Structural Variations , 2015 .

[25]  Kenshi Hayashi,et al.  D-HaploDB: a database of definitive haplotypes determined by genotyping complete hydatidiform mole samples , 2006, Nucleic Acids Res..

[26]  Ainoha Martin Mayordomo Human genome conceptual modeling: An ontological framework for the design and implementation of genomic Information Systems , 2012, 2012 Sixth International Conference on Research Challenges in Information Science (RCIS).

[27]  José Fabián,et al.  Integración de haplotipos al modelo conceptual del genoma humano utilizando la metodología sile , 2014 .

[28]  Dora Janeth Fonseca,et al.  Deletions identification in female carriers of Duchennes muscular distrophy , 2008 .

[29]  Alexander Borgida,et al.  Conceptual Modeling of Information Systems , 1985, On Knowledge Base Management Systems.

[30]  Leslie G Biesecker,et al.  Databases of genomic variation and phenotypes: existing resources and future needs. , 2013, Human molecular genetics.

[31]  D. Haussler,et al.  Exploring relationships and mining data with the UCSC Gene Sorter. , 2005, Genome research.

[32]  Mark Daly,et al.  Haploview: analysis and visualization of LD and haplotype maps , 2005, Bioinform..

[33]  S. Gabriel,et al.  The Structure of Haplotype Blocks in the Human Genome , 2002, Science.

[34]  Matilde Celma,et al.  Integrating Human Genome Variation Data: An Information System Approach , 2011, 2011 22nd International Workshop on Database and Expert Systems Applications.

[35]  Antonio Sifuentes Alvarez,et al.  Asociación del cáncer de mama con los polimorfismos T-66G y G-156GG del gen SPP1 y las concentraciones séricas de osteopontina , 2012 .

[36]  D. Schaid,et al.  Score tests for association between traits and haplotypes when linkage phase is ambiguous. , 2002, American journal of human genetics.

[37]  N. Schork,et al.  Accuracy of haplotype frequency estimation for biallelic loci, via the expectation-maximization algorithm for unphased diploid genotype data. , 2000, American journal of human genetics.

[38]  C. J. Date Introducción a los sistemas de bases de datos , 1993 .

[39]  Carole A. Goble,et al.  Conceptual modelling of genomic information , 2000, Bioinform..

[40]  Oscar Pastor,et al.  Enforcing Conceptual Modeling to improve the understanding of human genome , 2010, 2010 Fourth International Conference on Research Challenges in Information Science (RCIS).

[41]  Scott F. Saccone,et al.  Bioinformatics Applications Note Databases and Ontologies Bioq: Tracing Experimental Origins in Public Genomic Databases Using a Novel Data Provenance Model , 2022 .

[42]  Armando Caballero Rua Genética de poblaciones y evolutiva I , 2012 .