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Critical Reviews™ in Eukaryotic Gene Expression

Impact factor: 1.660

ISSN Print: 1045-4403
ISSN Online: 2162-6502

Critical Reviews™ in Eukaryotic Gene Expression

DOI: 10.1615/CritRevEukaryotGeneExpr.2016015724
pages 97-113

Clinical Genomics: Challenges and Opportunities

Priyanka Vijay
Department of Physiology and Biophysics, Weill Cornell Medical College, New York, New York. Tri-Institutional Training Program in Computational Biology and Medicine, Weill Cornell Medical College, New York, New York
Alexa B. R. McIntyre
Department of Physiology and Biophysics, Weill Cornell Medical College, New York, New York. Tri-Institutional Training Program in Computational Biology and Medicine, Weill Cornell Medical College, New York, New York
Christopher E. Mason
Department of Physiology and Biophysics, Weill Cornell Medical College, New York, New York. Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, Weill Cornell Medical College, New York, New York. Feil Family Brain and Mind Research Institute, New York, New York
Jeffrey P. Greenfield
Department of Neurological Surgery, New York-Presbyterian Hospital, Weill Cornell Medical College, New York, New York
Sheng Li
Department of Neurological Surgery, New York-Presbyterian Hospital, Weill Cornell Medical College, New York, New York

ABSTRACT

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.