Single-Nucleotide Polymorphisms: Associations, Molecular Functions, Applications and Progress (2nd Edition)
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (25 January 2025) | Viewed by 816
Special Issue Editor
Interests: PCR; real-time PCR; miRNA; electrophoresis; SNP; SNV; polymorphism; genetic variation; genetic association
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
This Special Issue, entitled “Single-Nucleotide Polymorphisms: Associations, Molecular Functions, Applications and Progress (2nd Edition)”, is the second edition of the Special Issue “Single-Nucleotide Polymorphisms: Association, Molecular Function, Application, and Progress” (https://www.mdpi.com/journal/genes/special_issues/single_nucleotide_polymorphisms), which included 21 papers and was read by 38,244 authors.
Single-nucleotide variation: A tiny change in the 3 billion base-pair long sequence of the human genome. It alters less than 5 × 10–8% of a human’s genetic information, but the consequences can be fateful or inconsequential. Other potential issues are alterations in regulation, signal transduction, and enzyme activity. There are more than 1 billion entries related to Homo sapiens in the dbSNP database of the NCBI. The number of research questions is at least 10 times higher.
It has been less than two decades since the Human Genome Project was completed. During this time, incredible progress has been achieved in the investigation of DNA sequencing. Today, it is possible to determine the sequence of a whole genome in a couple of hours; on the other hand, it is challenging to understand the functions of the identified sequence variations. They are, however, of significant importance, as the SNPs can shed light on molecular dysfunctions related to diseases, offering the definition of novel, biologically relevant diagnostic categories, not to mention prevention and the elaboration of targeted therapeutical approaches.
Studies on the molecular functions, as well as clinical consequences, of SNPs (including positive and negative results) will be collected in the form of original research publications, as well as systematic review articles, in this Special Issue.
Dr. Zsolt Ronai
Guest Editor
Manuscript Submission Information
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Keywords
- SNP
- point mutation
- association study
- monogenic disorder
- complex traits/disorders
- haplotype
- molecular assays
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