Recent Advances in Research on Chromosome Abnormalities and Genomic Disorders

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Genetics".

Deadline for manuscript submissions: 30 November 2024 | Viewed by 154

Special Issue Editors


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Guest Editor
Texas Tech Health Science Center, Lubbock and KinderGenome Medical Genetics, Dallas, TX, USA
Interests: clinical genetics; relation of DNA change to genetic diseases and syndromes; Ehlers-Danlos syndrome and connective tissue dysplasias
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, TX, USA
Interests: chromosome changes; anomalies; karyotype; FISH; aCGH; microarray; exome sequencing; clinical genetics; cytogenomics; genome
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The advent of NextGen or massive parallel-DNA sequencing technology has allowed for the comprehensive screening of all 23 pairs of chromosomes and 23,000 plus genes in patient genomes, providing unprecedented opportunities to understand genetically predisposed disease. Genomic analysis has shifted one-gene-mutated disease models to the more realistic disease spectra–polygene relationships expected for multifactorial causation, with autism, diabetes, connective tissue dysplasia and even certain sickle cell disease patients being cogent examples. Finding multiple DNA changes in patients poses considerable challenges for selecting the DNA variations relevant to the patients’ symptoms and diseases, the resulting “variant of uncertain significance” qualification causing many physicians and insurance companies to view genomic testing as “experimental”. This Special Issue will emphasize DNA sequence data collected on patients with any type of disease, welcoming manuscripts describing these data along with recommendations for further applications and interpretations of genomic analysis (e.g., reporting microarray analysis, gene panels or whole-genome/exome sequencing. As an example, the editorial contribution will overview novel microarray and gene changes in patients with autism as qualified by a novel clinical qualification protocol. Manuscripts dealing with genomic analysis and the value of untapped DNA findings in Asian populations are particularly encouraged.

This Special Issue examines advances in cytogenomic testing and how their potential for understanding disease can be optimized given the challenges of distinguishing circumstantial from pathological variation.

You may choose our Joint Special Issue in Cells.

Prof. Dr. Golder N. Wilson
Prof. Dr. Vijay S. Tonk
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. Biomolecules 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 2700 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

  • genomic testing
  • whole-exome sequencing
  • microarray analysis
  • cytogenetics
  • DNA diagnosis
  • DNA variation
  • DNA variant qualification
  • genetic disease

Published Papers

This special issue is now open for submission.
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