Article
Role of genetic variability in Mendelian and multifactorial diseases.
Gaceta medica de Mexico - 1 Jan 2019
Ramírez-Bello Julián
Abstract excerpt
The first draft of the human genome sequencing published in 2001 reported a large number of single nucleotide polymorphisms (SNPs). Given that these polymorphisms could practically represent all the variability involved in the susceptibility, protection, severity, among other aspects, of various common diseases, as well as in their response to medications, it was thought that they might be "the biomarkers of...
Topics
- Disease
- Gene Deletion
- Genetic Markers
- Genetic Variation
- Genome, Human
- Humans
- Lod Score
- Mutagenesis, Insertional
- Mutation
- Polymorphism, Single Nucleotide
- Tandem Repeat Sequences