[Accurate description of the phenotype: the clinician's contribution to the clarification of genotype-phenotype correlations].
Utility of genomics in medical practice highly depends on the knowledge of genotype-phenotype correlations. So far, severity, natural course, drug-sensitivity, etc. belonging to a given mutation have been clarified in only a part of diseases. Concerning such research, the main difficulty is that the objectively determined genotype is often related to the more or less superficially or even subjectively described phenotype. Detailed, accurate, possibly objective recording of the clinical picture and the findings during follow-up by the clinician may make the protracted and heterogeneous collection of data much quicker and more reliable.
Méhes
Károly
K
Pécsi Tudományegyetem, Altalános Orvostudományi Kar, Orvosi Genetikai és Gyermekfejlodéstani Intézet.
Kosztolányi
György
G
D005826:Genetics, Medical / Q000379:methods / Q000592:standards / Q000639:trends; D005838:Genotype; D006801:Humans; D008967:Molecular Biology / Q000379:methods / Q000592:standards / Q000639:trends; D010641:Phenotype