Protein: an overview on the reference sequences
Human Genome Variation Society (HGVS) nomenclature, the Recommendations for the description of sequence variants in DNA, RNA, and protein sequences, is authorized by the Human Genome Organization (HUGO), under the responsibility of the HGVS Variant Nomenclature Committee (HVNC). The description of a variant is preceded by the use of a prefix (lowercase letter followed by […]
RNA: an overview on the reference sequences
Human Genome Variation Society (HGVS) nomenclature, the Recommendations for the description of sequence variants in DNA, RNA, and protein sequences, is authorized by the Human Genome Organization (HUGO), under the responsibility of the HGVS Variant Nomenclature Committee (HVNC). The description of a variant is preceded by the use of a prefix (lowercase letter followed by […]
Recommended reference sequences
Reference sequences are sequences used as references to provide a description of the variants found in an analyzed sequence. They must be accepted and the file must be public and clearly described.
DNA: a brief overview on the reference sequences
DNA: an overview on the reference sequences: Genomic reference sequence (g.), Coding DNA reference sequence (c.), Circular genomic reference sequence (o.), Mitochondrial reference sequence (m.)
Pedigree chart
The Pedigree chart is a diagram which shows the genealogical relationships between members of a family. In medicine, It shows patterns of inheritance for certain traits and conditions within a family.
The unavoidability of genetic counseling
“Genetic counseling” was defined as a communication process concerning the occurrence or risk of occurrence of a condition of genetic nature in a family.
A View on Genetic Testing
Genetic tests, depending on the purpose with which they are applied, include: diagnostic testing, presymptomatic testing, screening testing, tests for the identification of healthy carriers, susceptibility or predictive testing, pharmacogenetics testing, forensic and ancestral testing.
Obesity and “tailored” therapy
Obesity: prevalence and genetics Obesity is associated with an increased probability of premature death. Obesity is recognised as a risk factor for major chronic diseases, thus becoming an important threat to public health [1, 2]. Based on the latest data from the NCD Risk Factor Collaboration (NCD-RisC), the prevalence of obesity has tripled in the […]
Endometriosis: “a cancer of no kill”
Endometriosis: a “history” over 100 years long Endometriosis is described more than 100 years ago as “endometrial-like tissue” outside the uterus [1, 2], endometriosis is a chronic condition characterized by an abnormality of endometrium cells (mucosa that normally covers the uterine cavity) leading to an ectopic localization of endometrial tissue, e.g. in the peritoneal cavity, […]