论文信息 - From phenotyping to genotyping - bioinformatics for the busy clinician.

From phenotyping to genotyping - bioinformatics for the busy clinician.

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.

[1] N. Holtzman,et al. Implications of the human genome initiative for the primary care physician. , 1991, Bioethics.

[2] Michael J Ackerman,et al. Implantable cardioverter-defibrillator explantation for overdiagnosed or overtreated congenital long QT syndrome. , 2016, Heart rhythm.

[3] Karsten M. Borgwardt,et al. The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity , 2015, Human mutation.

[4] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.