A Bioinformatics Toolkit: In Silico Tools and Online Resources for Investigating Genetic Variation

Simon J. Webster; Maryam A. Aldossary; Daniel J. Hampshire

doi:10.1055/s-0039-1692978

Seminars in Thrombosis and Hemostasis, Inhaltsverzeichnis

Semin Thromb Hemost 2019; 45(07): 674-684
DOI: 10.1055/s-0039-1692978

Review Article

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

A Bioinformatics Toolkit: In Silico Tools and Online Resources for Investigating Genetic Variation

Simon J. Webster

¹Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom

,

Maryam A. Aldossary

¹Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom

,

Daniel J. Hampshire

¹Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom

²Department of Biomedical Sciences, University of Hull, Hull, United Kingdom

› Institutsangaben

Abstract

With the advent of large-scale next-generation sequencing initiatives, there is an increasing importance to interpret and understand the potential phenotypic influence of identified genetic variation and its significance in the human genome. Bioinformatics analyses can provide useful information to assist with variant interpretation. This review provides an overview of tools/resources currently available, and how they can help predict the impact of genetic variation at the deoxyribonucleic acid, ribonucleic acid, and protein level.

Keywords

bioinformatics - genetic variation - in silico tools - online resources - sequence variation

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References
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