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Editorial Board Members’ Collection Series: Human Traits and Genomics

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 31 July 2024 | Viewed by 113

Special Issue Editors

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Guest Editor
Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy
Interests: rare disorders of chromatin regulators; Rubinstein-Taybi and related syndromes of the epigenetic machinery; chromosomal/genomic instability syndromes with cancer predisposition; imprinting disorders affecting growth; neurodevelopmental imprinting disorders; genomic disorders; MARK4 gene; c-kit gene
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
Department Biological, Geological and Environmental Sciences, University of Catania, 95124 Catania, Italy
Interests: genetics; genomics; molecular cytogenetics; chromosomes; nuclear chromatin organization; evolutionary genetics; developmental genetics; forensic genetics; environmental mutagenesis; epigenetics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Studies of the genetic component that is associated with human traits rely on a variety of strategies encompassing case–control and linkage (family-based) designs, along with the integration of evolutionary models to assess the likelihood of different classes of mutations. Despite the advances in genomic sequencing technology, a significant portion of the genetic causes of rare and common traits remain elusive, as functional variants often extend beyond coding regions; this poses challenges to identification. The availability of new data and tools, such as the telomere-to-telomere reference sequence of the human genome, the introduction of a human pangenome reflecting the haplotypic diversity of a population, and the utilization of cutting-edge technologies for genome analysis, such as long-read sequencing technology, single-cell sequencing, and the introduction of deep learning methods to extract knowledge from genomic data, offer new dimensions with which to unravel the molecular basis associated with trait inheritance and development in humans. This collection series aims to gather papers illustrating the latest and most innovative approaches in genetic data analysis for human traits. These approaches aim to uncover the patterns that associate genomic profiles with Mendelian or complex traits, thus contributing to a deeper understanding of the intricate mechanisms that govern trait inheritance in the human population.

Dr. Giovanni Malerba
Prof. Dr. Lidia Larizza
Prof. Dr. Salvatore Saccone
Guest Editors

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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.


  • genetic data analysis
  • genomic profiling
  • trait inheritance
  • DNA and RNA sequencing approaches
  • deep learning methods

Published Papers

This special issue is now open for submission.
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