From phenotyping to genotyping - bioinformatics for the busy clinician
| Autor: | H. Baris Feldman, Karin Weiss, Lily Bazak, Adi Reches, Idit Maya |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Internet Biological data Genotype Genome Human Computer science Process (engineering) Computational Biology Genomics General Medicine Scientific field 030105 genetics & heredity Bioinformatics 03 medical and health sciences Phenotype 030104 developmental biology Clinical diagnosis Databases Genetic Genetics Humans Genomic information Analysis tools Genotyping Genetic Association Studies Genetics (clinical) |
| Zdroj: | European Journal of Medical Genetics. 62:103689 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2019.103689 |
| Popis: | Bioinformatics is a new scientific field. It applies computational and analysis tools to the capture, analyze and interpret large quantities of biological data. To understand genomic information, comparative analysis of data obtained is crucial. Primary physicians are dauntingly being implored to evaluate patients genetically, and analyze the results received. We depict online tools available for defining the clinical characteristics of a patient (phenotype), assisting in compiling them into a tentative genetic clinical diagnosis. The subsequent step is to then learn the patient's genotype and how to curate a specific genetic copy number or sequence variant. The online resources available to assist in this arduous process are described. |
| Databáze: | OpenAIRE |
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