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

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

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: Oct 27, 2022
• 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