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2016 ; 26
(2
): 97-113
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Clinical Genomics: Challenges and Opportunities
#MMPMID27480773
Vijay P
; McIntyre AB
; Mason CE
; Greenfield JP
; Li S
Crit Rev Eukaryot Gene Expr
2016[]; 26
(2
): 97-113
PMID27480773
show ga
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.
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