Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome se...
Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts
About this item
Full title
Author / Creator
Fresard, Laure , Smail, Craig , Smith, Kevin S , Ferraro, Nicole M , Teran, Nicole A , Kernohan, Kristin D , Bonner, Devon , Li, Xin , Marwaha, Shruti , Zappala, Zachary , Balliu, Brunilda , Davis, Joe R , Liu, Boxiang , Prybol, Cameron J , Kholer, Jennefer N , Zastrow, Diane B , Fisk, Dianna G , Grove, Megan E , Davidson, Jean M , Hartley, Taila , Joshi, Ruchi , Strober, Benjamin J , Utiramerur, Sowmithri , Care4rare Canada Consortium , Undiagnosed Diseases Network , Lind, Lars , Ingelsson, Erik , Battle, Alexis , Bejerano, Gill , Bernstein, Jonathan A , Ashley, Euan A , Boycott, Kym M , Merker, Jason D , Wheeler, Matthew T and Montgomery, Stephen B
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
Formats
Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Subjects
More information
Scope and Contents
Contents
RNA sequencing (RNA-seq) is a complementary approach for Mendelian disease diagnosis for patients in whom exome-sequencing is not informative. For both rare neuromuscular and mitochondrial disorders, its application has improved diagnostic rates. However, the generalizability of this approach to diverse Mendelian diseases has yet to be evaluated. W...
Alternative Titles
Full title
Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts
Authors, Artists and Contributors
Author / Creator
Smail, Craig
Smith, Kevin S
Ferraro, Nicole M
Teran, Nicole A
Kernohan, Kristin D
Bonner, Devon
Li, Xin
Marwaha, Shruti
Zappala, Zachary
Balliu, Brunilda
Davis, Joe R
Liu, Boxiang
Prybol, Cameron J
Kholer, Jennefer N
Zastrow, Diane B
Fisk, Dianna G
Grove, Megan E
Davidson, Jean M
Hartley, Taila
Joshi, Ruchi
Strober, Benjamin J
Utiramerur, Sowmithri
Care4rare Canada Consortium
Undiagnosed Diseases Network
Lind, Lars
Ingelsson, Erik
Battle, Alexis
Bejerano, Gill
Bernstein, Jonathan A
Ashley, Euan A
Boycott, Kym M
Merker, Jason D
Wheeler, Matthew T
Montgomery, Stephen B
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2099219644
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2099219644
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/408492
How to access this item
https://www.proquest.com/docview/2099219644?pq-origsite=primo&accountid=13902
