title: Critical role of bioinformatics in translating huge amounts of next-generation sequencing data into personalized medicine.
abstract: Realizing personalized medicine requires integrating diverse data types with bioinformatics. The most vital data are genomic information for individuals that are from advanced next-generation sequencing (NGS) technologies at present. The technologies continue to advance in terms of both decreasing cost and sequencing speed with concomitant increase in the amount and complexity of the data. The prodigious data together with the requisite computational pipelines for data analysis and interpretation are stressors to IT infrastructure and the scientists conducting the work alike. Bioinformatics is increasingly becoming the rate-limiting step with numerous challenges to be overcome for translating NGS data for personalized medicine. We review some key bioinformatics tasks, issues, and challenges in contexts of IT requirements, data quality, analysis tools and pipelines, and validation of biomarkers.
authors: Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR 72079, USA. huixiao.hong@fda.hhs.gov
authors: Huixiao
authors: H
authors: Hong
authors: Wenqian
authors: W
authors: Zhang
authors: Jie
authors: J
authors: Shen
authors: Zhenqiang
authors: Z
authors: Su
authors: Baitang
authors: B
authors: Ning
authors: Tao
authors: T
authors: Han
authors: Roger
authors: R
authors: Perkins
authors: Leming
authors: L
authors: Shi
authors: Weida
authors: W
authors: Tong
mesh_terms: D019295:Computational Biology / Q000379:methods*; D003627:Data Interpretation, Statistical; D003628:Database Management Systems; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing / Q000295:instrumentation / Q000706:statistics & numerical data*; D006801:Humans; D033181:Information Dissemination; D020407:Internet; D057285:Precision Medicine / Q000706:statistics & numerical data*; D017422:Sequence Analysis, DNA / Q000706:statistics & numerical data; D012984:Software