Emerging Advances in Genomics: Perspectives from the United States
A special issue of Current Issues in Molecular Biology (ISSN 1467-3045). This special issue belongs to the section "Bioinformatics and Systems Biology".
Deadline for manuscript submissions: 31 January 2027 | Viewed by 117
Editor
2. KinderGenome Genetics Private Practice, 5347 W Mockingbird, Dallas, TX 75209, USA
Interests: genomics; syndromology; connective tissue dysplasias; Ehlers–Danlos syndrome
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
This regional Special Issue of CIMB will focus on the progress and problems of genomic analysis as perceived by authors in the United States. NextGen or massive parallel sequencing has made it possible to analyze all human chromosomes for subtle DNA excesses/deficiencies by microarray analysis and all genes for nucleotide sequence variation by whole genome/exome sequencing. These transitions from one to all chromosome regions and one to all gene analysis have delineated many new disorders, yet involve parallel difficulties in separating disease-contributing or pathogenic variants from the abundant copy number or nucleotide sequence variants that are found in ostensibly normal people. The resulting conservative protocol that qualifies the majority of many variants as having uncertain significance has hindered the acceptance of genomic analysis by patients and physicians who seek definitive rather than equivocal diagnoses.
Exacerbating this uncertainty is the valuable systemization of genomic analysis by commercial laboratories in the United States. DNA results, including incidental variations, are conveyed by reports unfamiliar to practicing physicians, with options for patients to discuss them remotely with affiliated genetic counselors. The topics of interest for this Special Issue range from the use of genomics to find new genetic diagnoses, diseases, mechanisms, and modes of interpretation to the ethics of genetic screening/testing to find gene changes that are neither expected nor well-understood by patients and physicians.
Dr. Golder N. Wilson
Guest Editor
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Keywords
- NextGen DNA sequencing
- genomic analysis
- chromosome-microarray analysis
- whole genome sequencing
- whole exome sequencing
- secondary or incidental findings
- copy number variants
- nucleotide sequence variants
- DNA variant qualification
- ethics of commercial DNA screening
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