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Updated: Aug 15, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Primer on medical genomics part V: bioinformatics
1Division of Area General Internal Medicine, Mayo Clinic, Rochester, Minn 55905, USA.
Abstract:
Bioinformatics is the discipline that develops and applies informatics to the field of molecular biology. Although a comprehensive review of the entire field of bioinformatics is beyond the scope of this article, I review the basic tenets of the field and provide a topical sampling of the popular technologies available to clinicians and researchers. These technologies include tools and methods for sequence analysis (nucleotide and protein sequences), rendering of secondary and tertiary structures for these molecules, and protein fold prediction that can lead to rational drug design. I then discuss signaling pathways, new standards for data representation of genes and proteins, and finally the promise of merging these molecular data with the clinical world (the new science of phenomics).
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