title: Clinical Genomics: Challenges and Opportunities.
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.
authors.affiliation: 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.
authors.forename: Priyanka
authors.initials: P
authors.lastname: Vijay
authors.affiliation: 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.
authors.forename: Alexa B R
authors.initials: AB
authors.lastname: McIntyre
authors.affiliation: 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.
authors.forename: Christopher E
authors.initials: CE
authors.lastname: Mason
authors.affiliation: Department of Neurological Surgery, New York-Presbyterian Hospital, Weill Cornell Medical College, New York, New York.
authors.forename: Jeffrey P
authors.initials: JP
authors.lastname: Greenfield
authors.affiliation: Department of Neurological Surgery, New York-Presbyterian Hospital, Weill Cornell Medical College, New York, New York.
authors.forename: Sheng
authors.initials: S
authors.lastname: Li
mesh_terms: D044127:Epigenesis, Genetic; D015894:Genome, Human; D023281:Genomics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D057285:Precision Medicine; D059467:Transcriptome