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

Authors :: Webster SJ
Aldossary MA
Hampshire DJ
Source :: Seminars in thrombosis and hemostasis [Semin Thromb Hemost] 2019 Oct; Vol. 45 (7), pp. 674-684. Date of Electronic Publication: 2019 Aug 05.
Publication Year :: 2019
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.<br />Competing Interests: None.<br /> (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)

Subjects :: Humans
Computational Biology methods
Education, Distance methods
Genetic Variation genetics

Full Text Access

Tools