From phenotyping to genotyping - bioinformatics for the busy clinician

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

doi:10.1016/j.ejmg.2019.103689

From phenotyping to genotyping - bioinformatics for the busy clinician

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

Research output: Contribution to journal › Review article › peer-review

2 Scopus citations

Abstract

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 language	English
Article number	103689
Journal	European Journal of Medical Genetics
Volume	62
Issue number	8
DOIs	https://doi.org/10.1016/j.ejmg.2019.103689
State	Published - Aug 2019
Externally published	Yes

Bibliographical note

Publisher Copyright:
© 2019 Elsevier Masson SAS

Keywords

Bioinformatics
Database
In silico predictive tools
Phenotype
Variant calcification

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10.1016/j.ejmg.2019.103689

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abstract = "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.",

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AU - Maya, I.

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KW - Database

KW - In silico predictive tools

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KW - Variant calcification

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From phenotyping to genotyping - bioinformatics for the busy clinician

Abstract

Bibliographical note

Keywords

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