Reanalysis of Clinical Exome Sequencing Data

As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. This study showed that a reanalysis of data initially analyzed about 6 years ago almost doubled the diagnostic yield and that a semiautomated approach to sequenc...

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Veröffentlicht in:	The New England journal of medicine 2019-06, Vol.380 (25), p.2478-2480
Hauptverfasser:	Liu, Pengfei, Meng, Linyan, Normand, Elizabeth A, Xia, Fan, Song, Xiaofei, Ghazi, Andrew, Rosenfeld, Jill, Magoulas, Pilar L, Braxton, Alicia, Ward, Patricia, Dai, Hongzheng, Yuan, Bo, Bi, Weimin, Xiao, Rui, Wang, Xia, Chiang, Theodore, Vetrini, Francesco, He, Weimin, Cheng, Hanyin, Dong, Jie, Gijavanekar, Charul, Benke, Paul J, Bernstein, Jonathan A, Eble, Tanya, Eroglu, Yasemen, Erwin, Deanna, Escobar, Luis, Gibson, James B, Gripp, Karen, Kleppe, Soledad, Koenig, Mary K, Lewis, Andrea M, Natowicz, Marvin, Mancias, Pedro, Minor, LaKeesha, Scaglia, Fernando, Schaaf, Christian P, Streff, Haley, Vernon, Hilary, Uhles, Crescenda L, Zackai, Elaine H, Wu, Nan, Sutton, V. Reid, Beaudet, Arthur L, Muzny, Donna, Gibbs, Richard A, Posey, Jennifer E, Lalani, Seema, Shaw, Chad, Eng, Christine M, Lupski, James R, Yang, Yaping
Format:	Artikel
Sprache:	eng
Schlagworte:	Exome Genetic counseling Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - genetics Genetic Testing - methods Genomics Humans Laboratories Mutation Patients Phenotype Sequence Analysis, DNA - methods Whole Exome Sequencing
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Beschreibung
Zusammenfassung:	As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. This study showed that a reanalysis of data initially analyzed about 6 years ago almost doubled the diagnostic yield and that a semiautomated approach to sequence analysis had a diagnostic sensitivity of 92.9%.
ISSN:	0028-4793 1533-4406
DOI:	10.1056/NEJMc1812033