Clinical application of whole-exome sequencing across clinical indications
Clinical application of whole-exome sequencing across clinical indications
About this item
Full title
Author / Creator
Retterer, Kyle , Juusola, Jane , Cho, Megan T. , Vitazka, Patrik , Millan, Francisca , Gibellini, Federica , Vertino-Bell, Annette , Smaoui, Nizar , Neidich, Julie , Monaghan, Kristin G. , McKnight, Dianalee , Bai, Renkui , Suchy, Sharon , Friedman, Bethany , Tahiliani, Jackie , Pineda-Alvarez, Daniel , Richard, Gabriele , Brandt, Tracy , Haverfield, Eden , Chung, Wendy K. and Bale, Sherri
Publisher
New York: Elsevier Inc
Journal title
Language
English
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Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
We report the diagnostic yield of whole-exome sequencing (WES) in 3,040 consecutive cases at a single clinical laboratory.
WES was performed for many different clinical indications and included the proband plus two or more family members in 76% of cases.
The overall diagnostic yield of WES was 28.8%. The diagnostic yield was 23.6% in proband-...
Alternative Titles
Full title
Clinical application of whole-exome sequencing across clinical indications
Authors, Artists and Contributors
Author / Creator
Juusola, Jane
Cho, Megan T.
Vitazka, Patrik
Millan, Francisca
Gibellini, Federica
Vertino-Bell, Annette
Smaoui, Nizar
Neidich, Julie
Monaghan, Kristin G.
McKnight, Dianalee
Bai, Renkui
Suchy, Sharon
Friedman, Bethany
Tahiliani, Jackie
Pineda-Alvarez, Daniel
Richard, Gabriele
Brandt, Tracy
Haverfield, Eden
Chung, Wendy K.
Bale, Sherri
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1801428257
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1801428257
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2015.148
