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A bioinformatics toolkit: in silico tools and online resources for investigating genetic variation

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

Authors

Simon J. Webster

Maryam A. Aldossary



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.

Citation

Webster, S. J., Aldossary, M. A., & Hampshire, D. J. (2019). A bioinformatics toolkit: in silico tools and online resources for investigating genetic variation. Seminars in Thrombosis and Hemostasis, 45(7), 674-684. https://doi.org/10.1055/s-0039-1692978

Journal Article Type Review
Acceptance Date Dec 10, 2018
Online Publication Date Aug 5, 2019
Publication Date 2019-10
Deposit Date Jan 28, 2020
Publicly Available Date Aug 6, 2020
Journal Seminars in Thrombosis and Hemostasis
Print ISSN 0094-6176
Electronic ISSN 1098-9064
Publisher Thieme Publishers
Peer Reviewed Peer Reviewed
Volume 45
Issue 7
Pages 674-684
DOI https://doi.org/10.1055/s-0039-1692978
Keywords Bioinformatics; Genetic variation; In silico tools; Online resources; Sequence variation
Public URL https://hull-repository.worktribe.com/output/3395106
Publisher URL https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0039-1692978

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