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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Special issue on bio-ontologies and phenotypes.

Larisa N Soldatova1, Nigel Collier2, Anika Oellrich3

  • 1Brunel University, London, UK.

Journal of Biomedical Semantics
|December 19, 2015
PubMed
Summary
This summary is machine-generated.

This special issue presents eight papers on bio-ontologies and phenotypes from a 2014 conference. It covers ontology updates, quality assessment, and phenotype description methods.

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Area of Science:

  • Bio-ontologies and Phenotype research
  • Bioinformatics and computational biology

Background:

  • This special issue features eight selected papers from the Bio-Ontologies Special Interest Group (SIG) and Phenotype Day at the 2014 Intelligent Systems for Molecular Biology (ISMB) conference.
  • The papers were chosen from 11 presentations, highlighting advancements in the field.

Discussion:

  • The selected papers explore diverse topics within bio-ontologies and phenotypes.
  • Key areas include the automated reuse and updating of ontologies.
  • Quality assessment of ontological resources is also a significant focus.

Key Insights:

  • Methods for the systematic description of phenotype variation are discussed.
  • These methods range from manual to fully automatic approaches.
  • The research emphasizes the practical application and improvement of biological knowledge representation.

Outlook:

  • Future directions in bio-ontologies and phenotype research are implied.
  • Continued development in automated ontology management and phenotype data integration is expected.
  • Advancements aim to enhance the utility and accuracy of biological databases.