Integrated multi-omics for rapid rare disease diagnosis on a national scale

• Published in: Nature medicine Vol. 29; no. 7; pp. 1681 - 1691
• Main Authors: 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, Stark, Zornitza
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.07.2023; Nature Publishing Group
• Subjects: 692/308/2056; 692/308/575; 692/699; Abnormalities; Biomedical and Life Sciences; Biomedicine; Cancer Research; Child; Children; Chromosome aberrations; Critical Illness; Decision analysis; Diagnosis; Diagnostic systems; Exome Sequencing; Gene sequencing; Genomes; Genomics; Humans; Infant; Infants; Infectious Diseases; Metabolic Diseases; Molecular Medicine; Multiomics; Neurosciences; Palliation; Patients; Proteomics; Rare diseases; Rare Diseases - diagnosis; Rare Diseases - genetics; Rare Diseases - therapy; Transcriptomes; Whole genome sequencing; Whole Genome Sequencing - methods

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 hospit...