Molecular Genetics and Clinical Diagnosis of Rare Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (10 June 2024) | Viewed by 2041
Special Issue Editor
Interests: rare mendelian diseases; molecular genetics; clinical diagnosis
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Advances in sequencing technologies have improved genetic diagnosis by enhancing the diagnostic yield, decreasing the time required to reach a diagnosis, and lowering the cost to patients and healthcare systems. Over the past decade, next-generation sequencing (NGS)-based disease-specific multi-gene panel, exome, and whole-genome sequencing have proven powerful in the diagnosis of patients with rare clinical conditions. In particular, the discovery of novel disease-associated genes has augmented our knowledge of the genetic etiologies of numerous previously undiagnosed human diseases, thus advancing our understanding of disease mechanisms and making it possible to develop potential treatments for these diseases.
In this Special Issue, we welcome original articles and reviews covering aspects of new disease genes, novel methodologies for diagnosing rare genetic disorders, and the potential treatment of genetic diseases. These include, but are not limited to, studies related to novel disease gene discoveries, expanded disease phenotypes, the disease–gene relationship, novel disease mechanisms, treatments, and outcomes. We also welcome studies on methodologies relevant to the diagnosis of rare genetic disorders (lab approaches, functional studies, animal models, bioinformatics and artificial intelligence, causal analyses, and others).
Dr. Miao Sun
Guest Editor
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Keywords
- nucleotide DNA
- mitochondrial DNA
- human disease
- mendelian diseases
- copy number variation
- molecular genetics
- chromosome abnormality
- genetic genealogy
- epigenetics
- causal analyses
- bioinformatics
- animal models
- functional studies
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