Reanalysis of Clinical Exome Sequencing Data.

Title	Reanalysis of Clinical Exome Sequencing Data.
Publication Type	Journal Article
Year of Publication	2019
Authors	Liu, P, Meng, L, Normand, EA, Xia, F, Song, X, Ghazi, A, Rosenfeld, J, Magoulas, PL, Braxton, A, Ward, P, Dai, H, Yuan, B, Bi, W, Xiao, R, Wang, X, Chiang, T, Vetrini, F, He, W, Cheng, H, Dong, J, Gijavanekar, C, Benke, PJ, Bernstein, JA, Eble, T, Eroglu, Y, Erwin, D, Escobar, L, Gibson, JB, Gripp, K, Kleppe, S, Koenig, MK, Lewis, AM, Natowicz, M, Mancias, P, Minor, LK, Scaglia, F, Schaaf, CP, Streff, H, Vernon, H, Uhles, CL, Zackai, EH, Wu, N, V Sutton, R, Beaudet, AL, Muzny, DM, Gibbs, RA, Posey, JE, Lalani, S, Shaw, C, Eng, CM, Lupski, JR, Yang, Y
Journal	N Engl J Med
Volume	380
Issue	25
Pagination	2478-2480
Date Published	2019 06 20
ISSN	1533-4406
Keywords	Exome, Genetic Diseases, Inborn, Genetic Testing, Humans, Mutation, Phenotype, Sequence Analysis, DNA, Whole Exome Sequencing
DOI	10.1056/NEJMc1812033
Alternate Journal	N Engl J Med
PubMed ID	31216405
PubMed Central ID	PMC6934160
Grant List	K08 HG008986 / HG / NHGRI NIH HHS / United States R35 NS105078 / NS / NINDS NIH HHS / United States U54 HG003273 / HG / NHGRI NIH HHS / United States UM1 HG006542 / HG / NHGRI NIH HHS / United States