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- W2897315130 abstract "Personalized MedicineVol. 15, No. 6 EditorialInterpretation of the noncoding genome in medicineJulia di IulioJulia di Iulio*Author for correspondence: E-mail Address: jdiiulio@scripps.edu The Scripps Research Institute, 3344 N Torrey Pines Rd, La Jolla, CA 92037, USASearch for more papers by this authorPublished Online:22 Oct 2018https://doi.org/10.2217/pme-2018-0065AboutSectionsView ArticleView Full TextPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinkedInReddit View articleKeywords: functional unitsgene regulationgenomicsregulatory elementsvariant interpretationwhole genome sequencingReferences1 ENCODE Project Consortium. The ENCODE (ENCyclopedia Of DNA Elements) project. Science 306(5696), 636–640 (2004).Crossref, Medline, Google Scholar2 Roadmap Epigenomics Consortium, Kundaje A, Meuleman W et al. Integrative analysis of 111 reference human epigenomes. Nature 518(7539), 317–330 (2015).Crossref, Medline, Google Scholar3 Ardlie KG, Deluca DS, Segrè AV et al. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science 348(6235), 648–660 (2015).Crossref, Medline, Google Scholar4 Li JJ, Biggin MD. Gene expression. Statistics requantitates the central dogma. Science 347(6226), 1066–1067 (2015).Crossref, Medline, CAS, Google Scholar5 Rao S, Huntley MH, Durand NC et al. A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping. Cell 159(7), 1665–1680 (2014).Crossref, Medline, CAS, Google Scholar6 Schmitt AD, Hu M, Jung I et al. A compendium of chromatin contact maps reveals spatially active regions in the human genome. Cell Reports 17(8), 2042–2059 (2016).Crossref, Medline, CAS, Google Scholar7 di Lulio J, Bartha I, Wong EH et al. The human noncoding genome defined by genetic diversity. Nat. Genet. 50(3), 333–337 (2018).Crossref, Medline, Google Scholar8 Ionita-Laza I, McCallum K, Xu B, Buxbaum JD. A spectral approach integrating functional genomic annotations for coding and noncoding variants. Nat. Genet. 48(2), 214–220 (2016).Crossref, Medline, CAS, Google Scholar9 Smedley D, Schubach M, Jacobsen J et al. A whole-genome analysis framework for effective identification of pathogenic regulatory variants in Mendelian disease. Am. J. Hum. Genet. 99(3), 595–606 (2016).Crossref, Medline, CAS, Google Scholar10 Shihab HA, Rogers MF, Gough J et al. An integrative approach to predicting the functional effects of non-coding and coding sequence variation. Bioinformatics 31(10), 1536–1543 (2015).Crossref, Medline, CAS, Google Scholar11 Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet. 46(3), 310–315 (2014).Crossref, Medline, CAS, Google Scholar12 Huang Y-F, Gulko B, Siepel A. Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data. Nat. Genet. 49(4), 618–624 (2017).Crossref, Medline, CAS, Google Scholar13 Gussow AB, Copeland BR, Dhindsa RS et al. Orion: detecting regions of the human non-coding genome that are intolerant to variation using population genetics. PLoS ONE 12(8), e0181604 (2017).Crossref, Medline, Google Scholar14 Petrovski S, Gussow AB, Wang Q et al. The intolerance of regulatory sequence to genetic variation predicts gene dosage sensitivity. PLoS Genet. 11(9), e1005492 (2015).Crossref, Medline, Google Scholar15 Fu Y, Liu Z, Lou S et al. FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer. Genome Biol. 15(10), 480 (2014).Crossref, Medline, Google Scholar16 Manolio TA, Collins FS, Cox NJ et al. Finding the missing heritability of complex diseases. Nature 461(7265), 747 (2009).Crossref, Medline, CAS, Google Scholar17 Long T, Hicks M, Yu H-C et al. Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites. Nat. Genet. 49(4), 568–578 (2017).Crossref, Medline, CAS, Google Scholar18 Telenti A, Pierce LC, Biggs WH et al. Deep sequencing of 10,000 human genomes. Proc. Natl Acad. Sci. 113(42), 11901–11906 (2016).Crossref, Medline, CAS, Google Scholar19 The 1000 Genomes Project Consortium, Abecasis GR, Auton A et al. An integrated map of genetic variation from 1092 human genomes. Nature 491(7422), 56–65 (2012).Crossref, Medline, Google Scholar20 Nagasaki M, Yasuda J, Katsuoka F et al. Rare variant discovery by deep whole-genome sequencing of 1070 Japanese individuals. Nat. Commun. 6, 8018 (2015).Crossref, Medline, CAS, Google Scholar21 The UK10K Consortium. The UK10K project identifies rare variants in health and disease. Nature 526(7571), 82 (2015).Crossref, Medline, Google Scholar22 Sherry S, Ward M, Sirotkin K. dbSNP – database for single nucleotide polymorphisms and other classes of minor genetic variation. Genome Res. 9(8), 677–679 (1999).Medline, CAS, Google Scholar23 Tewhey R, Kotliar D, Park DS et al. Direct identification of hundreds of expression-modulating variants using a multiplexed reporter assay. Cell 165(6), 1519–1529 (2016).Crossref, Medline, CAS, Google ScholarFiguresReferencesRelatedDetailsCited ByVariants of significance: medical genetics and surgical outcomes in congenital heart disease29 September 2020 | Current Opinion in Pediatrics, Vol. 32, No. 6A pediatric perspective on genomics and prevention in the twenty-first century2 October 2019 | Pediatric Research, Vol. 87, No. 2 Vol. 15, No. 6 Follow us on social media for the latest updates Metrics Downloaded 72 times History Received 22 June 2018 Accepted 17 July 2018 Published online 22 October 2018 Published in print November 2018 Information© 2018 Future Medicine LtdKeywordsfunctional unitsgene regulationgenomicsregulatory elementsvariant interpretationwhole genome sequencingFinancial & competing interests disclosureThe author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.No writing assistance was utilized in the production of this manuscript.PDF download" @default.
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