Special Issue

Chromosomal Rearrangements Due to Chromothripsis

Submission Deadline: November 30, 2026 (Open) Submit Now

Guest Editor

Thomas Liehr, PhD, ass. Prof.

Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany

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Research Interests: clinical genetics; (molecular) cytogenetics; interphase architecture; ZOO-FISH; marker and derivative chromosomes

About This Topic

Chromosomal rearrangements can arise through various mechanisms. One-step-shattering and reconstruction of a (whole or parts of a) genome has been observed in embryonic and tumor cells, yet. This is referred to as chromothripsis, chromoanasynthesis or chromoplexy, can be accompanied by the formation of micronuclei, and can lead to balanced or unbalanced situations. Chromothripsis, chromoanasynthesis or chromoplexy can be identified by classical or banding cytogenetics (as micronuclei or chromosome pulverization) or molecular, particularly in next-generation sequencing or long-read sequencing. Optical genome mapping and fluorescence in situ hybridization are also suitable for identifying and characterizing the resulting complexity. We invite contributions reporting on well-characterized chromothripsis, chromoanasynthesis or chromoplexy events. Ideally, the chromosomal rearrangements should have been characterized using more than one approach. The structure of the resulting derivative chromosomes should be understood and presented. With this special issue, we aim to contribute to the understanding of the diversity of possible outcomes and consequences of one-step chromosomal shattering. Work on humans or other species is welcome, including prenatal, postnatal, and primary tumor tissue samples as well as cell lines.

Keywords

Chromothripsis; chromoanasynthesis; chromoplex; cancer; cell lines; clinical genetics; optical genomic mapping; fluorescence in situ hybridization; next generation sequencing; long read sequencing

Manuscript Submission Information

Manuscripts should be submitted through the LIDSEN Submission System. Detailed information on manuscript preparation and submission is available in the Instructions for Authors. All submitted articles will be thoroughly refereed through a single-blind peer-review process and will be processed following the Editorial Process and Quality Control policy. Upon acceptance, the article will be immediately published in a regular issue of the journal and will be listed together on the special issue website, with a label that the article belongs to the Special Issue. LIDSEN distributes articles under the Creative Commons Attribution (CC BY 4.0) License in an open-access model. The authors own the copyright to the article, and the article can be free to access, distribute, and reuse provided that the original work is correctly cited.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). Research articles and review articles are highly invited. Authors are encouraged to send the tentative title and abstract of the planned paper to the Editorial Office (genetics@lidsen.com) for record. If you have any questions, please do not hesitate to contact the Editorial Office.

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