Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Eclipse
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Primary Cell, Fibroblast
DISEASE(S): Developmental And Epileptic Encephalopathy 9
SUBMITTER: David Stroud
LAB HEAD: David Stroud
PROVIDER: PXD042001 | Pride | 2023-10-24
REPOSITORIES: Pride
Lunke Sebastian S Bouffler Sophie E SE Patel Chirag V CV Sandaradura Sarah A SA Wilson Meredith M Pinner Jason J Hunter Matthew F MF Barnett Christopher P CP Wallis Mathew M Kamien Benjamin B Tan Tiong Y TY Freckmann Mary-Louise ML Chong Belinda B Phelan Dean D Francis David D Kassahn Karin S KS Ha Thuong T Gao Song S Arts Peer P Jackson Matilda R MR Scott Hamish S HS Eggers Stefanie S Rowley Simone S Boggs Kirsten K Rakonjac Ana A Brett Gemma R GR de Silva Michelle G MG Springer Amanda A Ward Michelle M Stallard Kirsty K Simons Cas C Conway Thomas T Halman Andreas A Van Bergen Nicole J NJ Sikora Tim T Semcesen Liana N LN Stroud David A DA Compton Alison G AG Thorburn David R DR Bell Katrina M KM Sadedin Simon S North Kathryn N KN Christodoulou John J Stark Zornitza Z
Nature medicine 20230608 7
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 conditions. The average time to result was 2.9 d and diagnostic yield was 47%. We performed additional bioinformatic analyses and transcriptome sequenci ...[more]