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

"all variants reported in this study have been deposited in clinvar ( sub13026601 scv003921769 to scv003922018 ).; the mass spectrometry proteomics data have been deposited to the proteomexchange consortium via the pride partner repository with the dataset identifier pxd042001 ."

"the schism code used during the study is available on github at https://github com/ssadedin/schism .; the variantgrid code ( www variantgrid com ) used during this study is available for research use under business source license 1 1 on github at https://github com/sacgf/variantgrid ."

"Competing interests The authors declare no competing interests."

"We thank all the families who participated in this study and the clinical teams involved in their care. The Acute Care Genomics program was funded by the Medical Research Futures Fund, Genomics Health Futures Mission (GHFM76747; to Z.S.), Royal Children’s Hospital Foundation grant (2020-1259; to Z.S.) and Queensland Genomics (to C.P.). In-kind support was provided by Australian Genomics (National Health and Medical Research Council grants GNT1113531 and GNT2000001; to K.N.N.) and the Sydney Children’s Hospital Network (to M.W.). This research was supported by grants and fellowships from the Australian National Health and Medical Research Council (GNT2009732 and GNT1164479). We acknowledge the Mito Foundation and Bio21 Mass Spectrometry and Proteomics Facility for the provision of instrumentation, training and technical support. L.S. is supported by a Melbourne International Research Scholarship and the Mito Foundation PhD Top-up Scholarship. The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children’s Hospital Foundation. The map used in Fig. 2a was sourced under a Pro Content license from canva.com. Icons used in Fig. 2b were sourced under a royalty-free license from thenounproject.com."