Journal: Molecular Syndromology
Submission Deadline: February 28, 2026
Recent technological advancements have significantly enhanced the detection rate and resolution of breakpoints in structural genome variations. Now, Molecular Syndromology is pleased to announce an open call for papers in clinical genetics. This initiative aims to emphasize the prevalence of structural genome variants within the human genome and deepen the understanding of their impact on clinical genetics.
We particularly welcome submissions covering:
- Molecular mechanisms of origin of structural genome variations, including genomic instability syndromes.
- Advantages and limitations of specific molecular cytogenetic methods, such as oligonucleotide and SNP arrays, whole genome-based methods, single molecule optical mapping etc.
- Interpretation of the impact of structural genome variations, including contiguous gene syndromes, unmasking of recessive variants, disruption of topologically associated domains.
- Outcome analyses of single cases and cohorts of patients investigated with whole genome-based methods, single molecule optical mapping and other novel techniques.
Please select the option "Call for Papers: Structural Genome Variants" when submitting your manuscript and mention this Call for Papers in your cover letter.
Article publication is subject to rigorous peer review in line with the journal's editorial policies. Please refer to our author guidelines for further details about the publication conditions.
As a hybrid journal, Molecular Syndromology supports Open Access publications. Corresponding authors can publish Open Access articles at no or reduced cost if they are associated with or employed by one of these universities/institutions.