Integrated multi-omics for rapid rare disease diagnosis on a national scale
Integrated multi-omics for rapid rare disease diagnosis on a national scale
About this item
Full title
Author / Creator
Lunke, Sebastian , Bouffler, Sophie E. , Patel, Chirag V. , Sandaradura, Sarah A. , Wilson, Meredith , Pinner, Jason , Hunter, Matthew F. , Barnett, Christopher P. , Wallis, Mathew , Kamien, Benjamin , Tan, Tiong Y. , Freckmann, Mary-Louise , Chong, Belinda , Phelan, Dean , Francis, David , Kassahn, Karin S. , Ha, Thuong , Gao, Song , Arts, Peer , Jackson, Matilda R. , Scott, Hamish S. , Eggers, Stefanie , Rowley, Simone , Boggs, Kirsten , Rakonjac, Ana , Brett, Gemma R. , de Silva, Michelle G. , Springer, Amanda , Ward, Michelle , Stallard, Kirsty , Simons, Cas , Conway, Thomas , Halman, Andreas , Van Bergen, Nicole J. , Sikora, Tim , Semcesen, Liana N. , Stroud, David A. , Compton, Alison G. , Thorburn, David R. , Bell, Katrina M. , Sadedin, Simon , North, Kathryn N. , Christodoulou, John and Stark, Zornitza
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Critically ill infants and children with rare diseases need equitable access to rapid and accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics program provided whole-genome sequencing to 290 families whose critically ill infants and children were admitted to hospitals throughout Australia with suspected genetic co...
Alternative Titles
Full title
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Authors, Artists and Contributors
Author / Creator
Bouffler, Sophie E.
Patel, Chirag V.
Sandaradura, Sarah A.
Wilson, Meredith
Pinner, Jason
Hunter, Matthew F.
Barnett, Christopher P.
Wallis, Mathew
Kamien, Benjamin
Tan, Tiong Y.
Freckmann, Mary-Louise
Chong, Belinda
Phelan, Dean
Francis, David
Kassahn, Karin S.
Ha, Thuong
Gao, Song
Arts, Peer
Jackson, Matilda R.
Scott, Hamish S.
Eggers, Stefanie
Rowley, Simone
Boggs, Kirsten
Rakonjac, Ana
Brett, Gemma R.
de Silva, Michelle G.
Springer, Amanda
Ward, Michelle
Stallard, Kirsty
Simons, Cas
Conway, Thomas
Halman, Andreas
Van Bergen, Nicole J.
Sikora, Tim
Semcesen, Liana N.
Stroud, David A.
Compton, Alison G.
Thorburn, David R.
Bell, Katrina M.
Sadedin, Simon
North, Kathryn N.
Christodoulou, John
Stark, Zornitza
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10353936
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10353936
Other Identifiers
ISSN
1078-8956
E-ISSN
1546-170X
DOI
10.1038/s41591-023-02401-9
