Targeted next generation sequencing as a tool for precision medicine

• Published in: BMC medical genomics Vol. 12; no. 1; pp. 81 - 17
• Main Authors: Gulilat, Markus, Lamb, Tyler, Teft, Wendy A., Wang, Jian, Dron, Jacqueline S., Robinson, John F., Tirona, Rommel G., Hegele, Robert A., Kim, Richard B., Schwarz, Ute I.
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 03.06.2019; BioMed Central; BMC
• Subjects: Adult; Algorithms; Alleles; Anticoagulants; Bioinformatics; Biomarkers; Child; Computational biology; Computer Simulation; Consortia; Copy number; Copy number variation; CYP2D6 protein; Cytochrome; Cytochrome P-450; Cytochrome P-450 CYP2D6 - genetics; Cytochrome P450; Data processing; Deoxyribonucleic acid; DNA; DNA Copy Number Variations; DNA probes; DNA sequencing; Drug dosages; Drug therapy; Enzymes; Gene frequency; Gene polymorphism; Genes; Genetic diversity; Genetic variation; Genomes; Genomics; Genotype & phenotype; Genotyping; Glucuronosyltransferase; Glucuronosyltransferase - genetics; High-Throughput Nucleotide Sequencing; Homology; Humans; In silico prediction; Metabolism; Molecular Sequence Annotation; Next generation sequencing; Novels; Pediatrics; Pharmacogenes; Polymorphism; Population genetics; Precision medicine; Precision Medicine - methods; Pseudogenes; Targeted exome sequencing; Technical Advance; Pharmacogenes; Copy number variation; Next generation sequencing; In silico prediction; Targeted exome sequencing

Targeted next-generation sequencing (NGS) enables rapid identification of common and rare genetic variation. The detection of variants contributing to therapeutic drug response or adverse effects is essential for implementation of individualized pharmacotherapy. Successful application of short-read...