Reanalysis of Clinical Exome Sequencing Data
Reanalysis of Clinical Exome Sequencing Data
About this item
Full title
Author / Creator
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 and Yang, Yaping
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
United States: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
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%.
Alternative Titles
Full title
Reanalysis of Clinical Exome Sequencing Data
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6934160
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6934160
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMc1812033
