From phenotyping to genotyping - bioinformatics for the busy clinician

A. Reches, K. Weiss, L. Bazak, H. Baris Feldman, I. Maya

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations


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.

Original languageEnglish
Article number103689
JournalEuropean Journal of Medical Genetics
Issue number8
StatePublished - Aug 2019
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2019 Elsevier Masson SAS


  • Bioinformatics
  • Database
  • In silico predictive tools
  • Phenotype
  • Variant calcification


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