"Big Data" Gets Personal

Matthew S Lebo¹, Sheila Sutti², Robert C Green³

Affiliations

¹ Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, U.S.A. Harvard Medical School, Boston, MA 02115, U.S.A. Partners HealthCare Personalized Medicine, Boston, MA 02115, U.S.A.
² Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, U.S.A.
³ Harvard Medical School, Boston, MA 02115, U.S.A. Partners HealthCare Personalized Medicine, Boston, MA 02115, U.S.A. Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, U.S.A. Broad Institute of MIT and Harvard, Boston, MA 02115, U.S.A. rcgreen@genetics.med.harvard.edu.

PMID: 26791946
DOI: 10.1126/scitranslmed.aad9460

Comment

"Big Data" Gets Personal

Matthew S Lebo et al. Sci Transl Med. 2016.

. 2016 Jan 20;8(322):322fs3-3fs3.

doi: 10.1126/scitranslmed.aad9460.

Authors

Matthew S Lebo¹, Sheila Sutti², Robert C Green³

Affiliations

¹ Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, U.S.A. Harvard Medical School, Boston, MA 02115, U.S.A. Partners HealthCare Personalized Medicine, Boston, MA 02115, U.S.A.
² Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, U.S.A.
³ Harvard Medical School, Boston, MA 02115, U.S.A. Partners HealthCare Personalized Medicine, Boston, MA 02115, U.S.A. Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, U.S.A. Broad Institute of MIT and Harvard, Boston, MA 02115, U.S.A. rcgreen@genetics.med.harvard.edu.

PMID: 26791946
DOI: 10.1126/scitranslmed.aad9460

Abstract

A woman at-risk for a rare fatal prion disease retrained in science with her husband and joined a bioinformatics team to analyze shared data, providing insights about variant penetrance and possible treatments (Minikel et al., this issue).

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Disease genetics: Prion variant pathogenicity through large-scale population sequencing.
Burgess DJ. Burgess DJ. Nat Rev Genet. 2016 Mar;17(3):127. doi: 10.1038/nrg.2016.9. Epub 2016 Feb 1. Nat Rev Genet. 2016. PMID: 26831349 No abstract available.

Comment on

Quantifying prion disease penetrance using large population control cohorts.
Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, Blevins J, Zhang S, Cohen Y, Chen W, Yamada M, Hamaguchi T, Sanjo N, Mizusawa H, Nakamura Y, Kitamoto T, Collins SJ, Boyd A, Will RG, Knight R, Ponto C, Zerr I, Kraus TF, Eigenbrod S, Giese A, Calero M, de Pedro-Cuesta J, Haïk S, Laplanche JL, Bouaziz-Amar E, Brandel JP, Capellari S, Parchi P, Poleggi A, Ladogana A, O'Donnell-Luria AH, Karczewski KJ, Marshall JL, Boehnke M, Laakso M, Mohlke KL, Kähler A, Chambert K, McCarroll S, Sullivan PF, Hultman CM, Purcell SM, Sklar P, van der Lee SJ, Rozemuller A, Jansen C, Hofman A, Kraaij R, van Rooij JG, Ikram MA, Uitterlinden AG, van Duijn CM; Exome Aggregation Consortium (ExAC); Daly MJ, MacArthur DG. Minikel EV, et al. Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169. Sci Transl Med. 2016. PMID: 26791950 Free PMC article.

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"Big Data" Gets Personal

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"Big Data" Gets Personal

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