Genetics and Genomics for Clinical Monitoring and Diagnosis 2023
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (15 November 2023) | Viewed by 243
Special Issue Editor
Interests: medical genetics; rare diseases; genetics of cancer; prenatal diagnosis; exome sequencing
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
As a result of the introduction of high-throughput techniques, the number of studies investigating the genomic pathogeneses of human diseases is increasing. The more our ability to discover new genetic/genomic variants increases, the more distant the concept of a “Mendelian disease” becomes. Thanks to high-throughput DNA/RNA sequencing, we have indeed discovered that each individual carries thousands of single nucleotides as well as copy-number variants. Genetic/genomic testing to identify the molecular basis of a disease in a clinical context is generally aimed to pick up the “major pathogenic variant” that can explain a patient’s phenotype. However, how closely the patient’s observed phenotype corresponds to the phenotype described for a gene can affect the sensitivity of the molecular test. Without a doubt, the clinical assessment of patients can be complicated by the so-called “exceptions to Mendelian inheritance”, including incomplete penetrance, age-related penetrance, and variable expressivity. In light of these phenomena, the analysis of genetic/genomic data can be biased both by genetic heterogeneity and by the presence of hypomorphic variants that modulate every phenotype and that could be frequent in the general population.
The aim of this Special Issue is to collect evidence that could help in establishing the sensitivity of current genetic/genomic tests in the clinical assessment and clinical monitoring of patients. In particular, the studies on families or cohorts could be important for defining the role of hypomorphic variants in the disease’s expression but also for highlighting the major genetic alteration(s) that could drive the recurrence risk assessment. Furthermore, this Special Issue is intended to identify what the detection rate of the current genetic/genomic tests is and how it is biased by the number of analysed loci/genomic regions.
Dr. Irene Bottillo
Guest Editor
Manuscript Submission Information
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Keywords
- genetic/genomic tests
- DNA sequencing technologies
- molecular genetics
- test sensitivity
- variants of unknown significance (VUS)
- copy number variants (CNV)
- hypomorphic variants
- incomplete penetrance
- variable expressivity
- genetic heterogeneity
