However, they typically are not the true pathogenic alleles but are in linkage disequilibrium with true causal alleles. These variants have relatively modest clinical impact and best guide the subsequent genetic studies to identify the true causal variants. D. Functional variants not linked to a disease. These variants affect gene function and the encoded protein but have not been associated with a clinical phenotype. These variants comprise a large number of nsSNVs identified in each exome. E. Variants with unknown biological function. This category encompasses the vast majority Inhibitors,research,lifescience,medical of variants in the genome or exome. These variants
typically have not been characterized but are not expected to be pathogenic. Characterization of these variants might change their classification. In clinical medicine, the focus is on the disease-causing
variants (category 1) and likely disease-causing variants (category 2). The clinical impact of disease-associated variants (category 3) is modest. The remaining two categories, which biologically Inhibitors,research,lifescience,medical might not be inconsequential, currently do not have direct clinical implications. Inhibitors,research,lifescience,medical The number of clinically relevant variants in each exome is expected to be less than 100. These candidate variants must be analyzed meticulously through various genetic and clinical Crenolanib algorithms to further restrict the number of putative causal variants and ultimately identify the one or two pathogenic variants. Upon further elucidation of Inhibitors,research,lifescience,medical the clinical significance of such variants, the information might be used for early preclinical detection of those who carry the risk variant, cascade screening of the family members, and possibly even tailoring medical therapy, implementing preventive measures, and avoiding drug toxicity. Conclusions WES affords the opportunity
to identify the vast majority of DSVs in the exome and is being increasing applied for medical purposes. Data interpretation is exceedingly challenging, and none of the bioinformatics algorithms alone or in combination are sufficiently Inhibitors,research,lifescience,medical robust to identify the pathogenic variants. Garnering medical information from the WES data requires knowledge of the genetic diversity of the humans, etiological complexity of the clinical phenotype, and phenotypic variability of the diseases. Similarly, applying the WES data to clinical practice requires in-depth knowledge of medical genetics as well as clinical medicine. There is considerable emphasis Terminal deoxynucleotidyl transferase on cross training the physicians and the geneticist to enhance applications of the genetic information to the practice of medicine. Both a team approach and training the current and next generation of cardiovascular physicians are necessary to understand and apply the modern molecular genetic discoveries to the care of patients. A great physician, however, always treats the patient who has the disease and not the disease itself or the medical or genetic test, as advocated by Sir William Osler, the father of modern medicine.
No related posts.