Recent Advances in Research on Chromosome Abnormalities and Genomic Disorders

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

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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.

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