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Review
. 2018 Aug 7;50(8):1-8.
doi: 10.1038/s12276-018-0087-0.

Realizing the significance of noncoding functionality in clinical genomics

Brian S Gloss  1   2 , Marcel E Dinger  3   4   5
Affiliations
Review

Realizing the significance of noncoding functionality in clinical genomics

Brian S Gloss et al. Exp Mol Med. .

Abstract

Clinical genomics promises unprecedented precision in understanding the genetic basis of disease. Understanding the impact of variation across the genome is required to realize this potential. Currently, clinical genomics analyses focus on protein-coding genes. However, the noncoding genome is substantially larger than the protein-coding counterpart, and contains structural, regulatory, and transcribed information that needs to be incorporated into genome annotations if the full extent of the opportunity to use genomic information in healthcare is to be realized. This article reviews the challenges and opportunities in unlocking the clinical significance of coding and noncoding genomic information and translating its utility in practice.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1. The rise of genomics at a glance.
DNA sequencing costs (blue) over time compared to the number of publications containing specific phrases in PubMed. Some key events in genomics are shown in green
Fig. 2
Fig. 2. How coding and noncoding variation can impact gene function.
Variants (arrows) at a hypothetical locus are shown along with potential functional impacts
Fig. 3
Fig. 3. The challenge of assigning variant impact in a complex genome.
Assigning variants (red arrows) at a hypothetical locus where protein-coding transcripts (blue), lncRNA (green), and regulatory regions (magenta) are incorporated
See this image and copyright information in PMC

References

    1. International HapMap Consortium. The International HapMap Project. Nature. 2003;426:789–796. doi: 10.1038/nature02168. - DOI - PubMed
    1. Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat. Rev. Genet. 2005;6:95–108. doi: 10.1038/nrg1521. - DOI - PubMed
    1. Eichler EE, et al. Missing heritability and strategies for finding the underlying causes of complex disease. Nat. Rev. Genet. 2010;11:446–450. doi: 10.1038/nrg2809. - DOI - PMC - PubMed
    1. Manolio TA, et al. Finding the missing heritability of complex diseases. Nature. 2009;461:747–753. doi: 10.1038/nature08494. - DOI - PMC - PubMed
    1. Lek M, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285–291. doi: 10.1038/nature19057. - DOI - PMC - PubMed

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