Knowledge Discovery in Biological Databases for Revealing Candidate Genes Linked to Complex Phenotypes
العنوان: | Knowledge Discovery in Biological Databases for Revealing Candidate Genes Linked to Complex Phenotypes |
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المؤلفون: | Christopher J. Rawlings, Keywan Hassani-Pak |
المصدر: | Journal of Integrative Bioinformatics Journal of Integrative Bioinformatics, Vol 14, Iss 1, Pp 803-9 (2017) |
بيانات النشر: | De Gruyter, 2017. |
سنة النشر: | 2017 |
مصطلحات موضوعية: | 0301 basic medicine, Candidate gene, 175_Genetics, 175_Bioinformatics, Databases, Factual, Genotype, 0206 medical engineering, knowledge discovery, Biological database, RRES175, 02 engineering and technology, Computational biology, Review, Biology, computer.software_genre, 03 medical and health sciences, Knowledge extraction, Animals, Humans, Heterogeneous information, Genetic Association Studies, Computational Biology, General Medicine, Phenotype, genotype-to-phenotype, Variety (cybernetics), 030104 developmental biology, knowledge graph, Genes, candidate gene prioritization, Data integration, Data mining, Genotype to phenotype, computer, TP248.13-248.65, 020602 bioinformatics, Biotechnology |
الوصف: | Genetics and “omics” studies designed to uncover genotype to phenotype relationships often identify large numbers of potential candidate genes, among which the causal genes are hidden. Scientists generally lack the time and technical expertise to review all relevant information available from the literature, from key model species and from a potentially wide range of related biological databases in a variety of data formats with variable quality and coverage. Computational tools are needed for the integration and evaluation of heterogeneous information in order to prioritise candidate genes and components of interaction networks that, if perturbed through potential interventions, have a positive impact on the biological outcome in the whole organism without producing negative side effects. Here we review several bioinformatics tools and databases that play an important role in biological knowledge discovery and candidate gene prioritization. We conclude with several key challenges that need to be addressed in order to facilitate biological knowledge discovery in the future. |
وصف الملف: | application/pdf |
اللغة: | English |
تدمد: | 1613-4516 |
الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07397bfb467843104b50f6d055886c64Test http://europepmc.org/articles/PMC6042805Test |
حقوق: | OPEN |
رقم الانضمام: | edsair.doi.dedup.....07397bfb467843104b50f6d055886c64 |
قاعدة البيانات: | OpenAIRE |
تدمد: | 16134516 |
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