Genomic Analysis of Common Disease
A special issue of Current Issues in Molecular Biology (ISSN 1467-3045). This special issue belongs to the section "Molecular Medicine".
Deadline for manuscript submissions: 31 July 2024 | Viewed by 5275
Special Issue Editor
Interests: genomics; syndromology; connective tissue dysplasias; Ehlers–Danlos syndrome
Special Issue Information
Dear Colleagues,
The ability of NextGen or massive parallel sequencing technology to screen all genes in the human genome for mutations is changing the reductive one disease–one responsible gene paradigm to one of multifactorial (polygenic–environmental) causation. The multiple DNA changes defined by all-gene screening are particularly applicable to common diseases like intellectual disability (autism), diabetes, cardiomyopathy/arrhythmias, connective tissue dysplasias, and many cancers where changes in gene networks lead to spectra of disease. A combined genomic analysis of microarray and whole exome sequencing can define the respective duplication/deficiency of chromosome regions (copy number variants) and of gene sequence alterations (DNA sequence variants), the former being common in patients with intellectual disability (autism), and the latter being common in diseases affecting older children and adults. This Special Issue will begin with a brief introduction of genomics and an article contrasting its results when applied to patients with increased joint laxity (hypermobility). Patients with developmental disability and joint laxity from hypotonia of surrounding muscles will have a mixture of copy number and sequence variants, and those with laxity from dysplastic connective tissue in Ehlers–Danlos syndrome will have sequence variants in a different but overlapping network of genes. Accompanying articles that describe DNA results from genomic analysis of other common conditions ranging from cardiovascular diseases to cancer will be explored as well.
Dr. Golder N. Wilson
Guest Editor
Manuscript Submission Information
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Keywords
- genomic analysis
- microarray analysis
- whole exome sequencing
- pathogenic mutations
- copy number variants
- DNA sequence variation
- intellectual disability
- autism
- connective tissue dysplasia
