Clinical Genomics: Challenges and Opportunities.

TitleClinical Genomics: Challenges and Opportunities.
Publication TypeJournal Article
Year of Publication2016
AuthorsVijay P, McIntyre ABR, Mason CE, Greenfield JP, Li S
JournalCrit Rev Eukaryot Gene Expr
Date Published2016
KeywordsEpigenesis, Genetic, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing, Humans, Precision Medicine, Transcriptome

Next-generation sequencing (NGS) approaches are highly applicable to clinical studies. We review recent advances in sequencing technologies, as well as their benefits and tradeoffs, to provide an overview of clinical genomics from study design to computational analysis. Sequencing technologies enable genomic, transcriptomic, and epigenomic evaluations. Studies that use a combination of whole genome, exome, mRNA, and bisulfite sequencing are now feasible due to decreasing sequencing costs. Single-molecule sequencing increases read length, with the MinIONTM nanopore sequencer, which offers a uniquely portable option at a lower cost. Many of the published comparisons we review here address the challenges associated with different sequencing methods. Overall, NGS techniques, coupled with continually improving analysis algorithms, are useful for clinical studies in many realms, including cancer, chronic illness, and neurobiology. We, and others in the field, anticipate the clinical use of NGS approaches will continue to grow, especially as we shift into an era of precision medicine.

Alternate JournalCrit Rev Eukaryot Gene Expr
PubMed ID27480773
PubMed Central IDPMC5470591
Grant ListR01 AI125416 / AI / NIAID NIH HHS / United States
R01 ES021006 / ES / NIEHS NIH HHS / United States
R01 NS076465 / NS / NINDS NIH HHS / United States
R25 EB020393 / EB / NIBIB NIH HHS / United States