Editorial

. 2017 Oct 17;136(16):1492-1494.

doi: 10.1161/CIRCULATIONAHA.117.030831.

Closing the Genotype-Phenotype Loop for Precision Medicine

Calum A MacRae¹, Christine E Seidman²

Affiliations

¹ From Cardiovascular Medicine Division, Brigham and Women's Hospital, Departments of Medicine (C.A.M., C.E.S.) and Genetics (C.E.S.), Harvard Medical School, Boston, MA; and Howard Hughes Medical Institute, Chevy Chase, MD (C.E.S.).
² From Cardiovascular Medicine Division, Brigham and Women's Hospital, Departments of Medicine (C.A.M., C.E.S.) and Genetics (C.E.S.), Harvard Medical School, Boston, MA; and Howard Hughes Medical Institute, Chevy Chase, MD (C.E.S.). cseidman@genetics.med.harvard.edu.

PMID: 29038206
PMCID: PMC6540750
DOI: 10.1161/CIRCULATIONAHA.117.030831

Editorial

Closing the Genotype-Phenotype Loop for Precision Medicine

Calum A MacRae et al. Circulation. 2017.

. 2017 Oct 17;136(16):1492-1494.

doi: 10.1161/CIRCULATIONAHA.117.030831.

Authors

Calum A MacRae¹, Christine E Seidman²

Affiliations

¹ From Cardiovascular Medicine Division, Brigham and Women's Hospital, Departments of Medicine (C.A.M., C.E.S.) and Genetics (C.E.S.), Harvard Medical School, Boston, MA; and Howard Hughes Medical Institute, Chevy Chase, MD (C.E.S.).
² From Cardiovascular Medicine Division, Brigham and Women's Hospital, Departments of Medicine (C.A.M., C.E.S.) and Genetics (C.E.S.), Harvard Medical School, Boston, MA; and Howard Hughes Medical Institute, Chevy Chase, MD (C.E.S.). cseidman@genetics.med.harvard.edu.

PMID: 29038206
PMCID: PMC6540750
DOI: 10.1161/CIRCULATIONAHA.117.030831

No abstract available

Keywords: Editorials; cardiomyopathies; cardiovascular diseases; cell biology; genomics; phenotype; precision medicine.

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Conflict of interest statement

Conflict of Interest Disclosures: None.

Comment on

Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.
Barefield DY, Puckelwartz MJ, Kim EY, Wilsbacher LD, Vo AH, Waters EA, Earley JU, Hadhazy M, Dellefave-Castillo L, Pesce LL, McNally EM. Barefield DY, et al. Circulation. 2017 Oct 17;136(16):1477-1491. doi: 10.1161/CIRCULATIONAHA.117.028585. Epub 2017 Aug 4. Circulation. 2017. PMID: 28778945 Free PMC article.

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References

1. Vogelstein B, Papadopoulos N, Velculescu VE, Zhou S, Diaz LA Jr., Kinzler KW. Cancer genome landscapes. Science. 2013;339:1546–1558. - PMC - PubMed
1. Baslan T, Hicks J. Unravelling biology and shifting paradigms in cancer with single-cell sequencing. Nat Rev Cancer. 2017;17:557–569. - PubMed
1. Schreiber SL, Kotz JD, Li M, Aubé J, Austin CP, Reed JC, Rosen H, White EL, Sklar LA, Lindsley CW, Alexander BR, Bittker JA, Clemons PA, de Souza A, Foley MA, Palmer M, Shamji AF, Wawer MJ, McManus O, Wu M, Zou B, Yu H, Golden JE, Schoenen FJ, Simeonov A, Jadhav A, Jackson MR, Pinkerton AB, Chung TD, Griffin PR, Cravatt BF, Hodder PS, Roush WR, Roberts E, Chung DH, Jonsson CB, Noah JW, Severson WE, Ananthan S, Edwards B, Oprea TI, Conn PJ, Hopkins CR, Wood MR, Stauffer SR, Emmitte KA; NIH Molecular Libraries Project Team. Advancing Biological Understanding and Therapeutics Discovery with Small-Molecule Probes. Cell. 2015;161:1252–1265. - PMC - PubMed
1. National Cancer Policy Forum BoHCS, Health and Medicine DIvision, National Academies of Sciences, Engineeering and Medicine. The Drug Development Paradigm in Oncology: Proceedings of a Workshop. Washington (DC)2017. National Academies Press. - PubMed
1. Burke MA, Cook SA, Seidman JG, Seidman CE. Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy. J Am Coll Cardiol. 2016;68:2871–2886. - PMC - PubMed

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Closing the Genotype-Phenotype Loop for Precision Medicine

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Closing the Genotype-Phenotype Loop for Precision Medicine

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