Chromosomal Heterogeneity and Human Diseases

Dear Colleagues,

While there is increased awareness that genomic heterogeneity plays a key role in human disease, current research efforts are focusing more on gene-level profiling. Recent sequencing results, however, have revealed unexpected findings: 1) Chromosomal aberrations including chaotic genomes are overwhelmingly detected in cancer (revealed by circus plots) and 2) data associated with chromosomal aberrations rather than specific genes can provide better clinical predictions. Another equally important realization redefines chromosomes as not just vehicles of genes, but as genomic information organizers. It provides the physical and topological platform for genes to interact upon. Such novel genomic information codes the network structure and is the true blueprint; thus, the karyotype represents “system inheritance” while the gene represents “parts inheritance.” Logically, profiling chromosomal heterogeneity in disease should become a priority.

To understand how chromosomal heterogeneity contributes to diseases, further characterization of different types of chromosomal aberrations and their implications for diseases are required (from clonal chromosomal aberrations to non-clonal chromosome aberrations). Furthermore, additional examples are needed to illustrate how to integrate gene data within the context of karyotype changes (correlation between copy number variation, chromosome conformation capture (3C) data and karyotypic variation), and the relationship among different types of chromosomal aberrations (polyploidy vs. aneuploidy, aneuploidy vs. structural changes, and chaotic chromosomes vs. a simple translocation). Finally, new methods are necessary to apply chromosomal aberrations (types and frequencies, including chromosomal mosaicism) to measure genome instability and its implications for disease diagnosis and treatment management. The goal of this Special Issue is to promote the aforementioned studies.

Prof. Dr. Henry H. Heng
Guest Editor

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 submissions that pass pre-check are 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 250 words) can be sent to the Editorial Office for assessment.

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 2600 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.