Detecting and Interpreting Structural Variation in the Human Genome
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (25 April 2025) | Viewed by 562
Special Issue Editor
Special Issue Information
Dear Colleagues,
Structural variation (SV) in the human genome can come in several forms including duplications, deletions, inversions and translocations. More complex variations can include several SVs that encompass a single complex genomic rearrangement (CGR) within an individual’s genome. Whether simple or complex, this type of variation can lead to a pathogenic consequence when it disrupts either gene dosage, creates to a gene fusion event or a direct interruption of a genes-coding sequence. Originally detected through traditional karyotyping, the identification of structural variation has vastly improved with the advent of high-resolution array comparative genomic hybridization (aCGH), short- and long-read sequencing methodologies, optical genome mapping (OGM) and bioinformatic tools specifically designed to find this type of variation within sequencing data. The fact that structural variation is frequently mediated by repetitive elements within the genome makes it particularly difficult to detect and characterize its final architecture. As large-scale sequencing projects continue to increase, the detection and need for interpretation of structural variation will continue to increase.
Dr. Christopher M. Grochowski
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 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 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.
Keywords
- structural variation (SV)
- copy number variation (CNV)
- ArrayCGH
- complex genomic rearrangement (CGR)
- non-allelic homologous recombination (NAHR)
- non-homologous end joining (NHEJ)
- chromothripsis
- breakpoint junctions
- deletion
- duplication
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.
Further information on MDPI's Special Issue policies can be found here.
