Special Issue "Complex Genetic Loci"
Deadline for manuscript submissions: 31 May 2018
Dr. Santiago Rodriguez
The study of genetic variation is key to understand genes, genetics and genomics. In previous decades, genetic analyses have been successful in many areas. One of these areas is the understanding of the influence of genetics on “complex traits”, i.e., phenotypes that are not a direct reflection of genotypes. Current genetic studies are mainly focussed on binary genetic variants such as single nucleotide polymorphisms (SNPs) and mutations. However, genomes contain many other types of genetic variants. The use of these “complex loci” in genetics is currently underexplored compared to binary genetic variants.
In this Special Issue, we welcome reviews, new methodologies and original articles covering aspects of complex loci relevant to genes, genetics and genomics. These include, but are not limited to, copy number variants (telomere length variation, mitochondrial DNA copy number, etc.), repeat polymorphisms (microsatellites, minisatellites, etc.), insertion-deletion variants, chromosomal abnormalities (irregular karyotype, structural modifications of chromosomes, etc.), transposable elements (LINEs, SINES, etc.). This Special Issue has a special emphasis on the relation between complex loci and complex traits, although studies relating complex loci to Mendelian traits are also welcome.
Dr. Santiago Rodriguez
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Copy number variants
The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.
Tentative Title: Whole Exome Sequencing identifies new host genomic susceptibility factors in empyema caused by Streptococcus pneumoniae in children
Authors: Antonio Salas Ellacuriaga (University of Santiago de Compostela)
Tentative Title: Strategies for Identifying Putative Quantitative Trait Genes in Model Animals
Authors: Akira Ishikawa (Nagoya University, Japan)
Abstract:Large numbers of quantitative trait loci (QTLs) affecting complex diseases and other quantitative traits have been reported in humans and model animals. However, the genetic architecture of these traits remains elusive due to the difficulty of identifying causal quantitative trait genes (QTGs) for typical QTLs with relatively small phenotypic effects. For QTG identification,a standard approachbased on DNA sequencinghas been long and widely used in combination with gene expression analysisin model animals.However, the standard approach doesnotalways allow the identification of a single candidate gene for a QTL of interest, because it is rare to narrow a target genomic region of the QTLdownto a very small region harboring only one gene. An alternativeapproach uses a combination of gene expression analysisandstatistical causal inference tests. This combined approach can dramatically reduce the number of candidate genes and can provide causal evidence that one of the candidate genes is a putative QTG for the QTL. Using this approach, I have recently succeeded in identifying a single putative QTG for resistance to obesity in mice. Here, I provide overviews of the standard and combined approaches and discuss the usefulness of the combined approach using my successful report as an example.
Authors: Shefali Setia Verma, Marylyn D. Ritchie
Abstract: Several genetic loci have been identified for common complex diseases through plethora of statistical and machine learning approaches. Technological and statistical advancements have now led to the identification of not only common genetic variations but also low frequency genetic variants, structural variants, environmentalal factors, as well as multi-omic variations that affect the phenotypic variance among population, thus referred to as heritability. The concept of heritability of complex traits has been studied for many years, but its application is mainly in addressing narrow sense heritability (or additive heritability) from Genome-Wide Association Studies. In this review, we reflect our perspective on the complexity of understanding heritability for human traits in comparison to model organisms, highlighting another round of clues that could help in elucidating the genetic architecture of complex traits.