Best S, Stark Z, Phillips P, Wu Y, Long JC, Taylor N, et al. Clinical genomic testing: what matters to key stakeholders? Eur J Hum Genet. 2020;28(7):866–73.
Article PubMed PubMed Central Google Scholar
Goranitis I, Wu Y, Lunke S, White SM, Tan TY, Yeung A, et al. Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children. Genet Sci. 2022;24(5):1037–44.
Smith HS, Brothers KB, Knight SJ, Ackerman SL, Rini C, Veenstra DL, et al. Conceptualization of utility in translational clinical genomics research. Am J Hum Genet. 2021;108(11):2027–36.
Article CAS PubMed PubMed Central Google Scholar
Wu Y, Balasubramaniam S, Rius R, Thorburn DR, Christodoulou J, Goranitis I. Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation. Eur J Hum Genet. 2022;30(5):577–86.
Belsey J, Chaihorsky L, Chediak L, Currie G, Goranitis I, Marshall D. Global Data Access for solving Rare Disease, A Health Economics Value Framework. World Economic Forum; 2020.
Smirnov D, Konstantinovskiy N, Prokisch H. Integrative omics approaches to advance rare disease diagnostics. J Inherit Metab Dis. 2023;46(5):824–38.
Article CAS PubMed Google Scholar
Kerr K, McAneney H, Smyth LJ, Bailie C, McKee S, McKnight AJ. A scoping review and proposed workflow for multi-omic rare disease research. Orphanet J Rare Dis. 2020;15(1):107.
Article PubMed PubMed Central Google Scholar
Martinez-Delgado B, Barrero MJ. Epigenomic approaches for the diagnosis of Rare diseases. Epigenomes [Internet]. 2022; 6(3).
Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, et al. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease. Hum Mol Genet. 2023;32(15):2441–54.
Article CAS PubMed PubMed Central Google Scholar
Bakhshalizadeh S, Hock DH, Siddall NA, Kline BL, Sreenivasan R, Bell KM, et al. Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency. Hum Genet. 2023;142(7):879–907.
Article CAS PubMed PubMed Central Google Scholar
Helman G, Compton AG, Hock DH, Walkiewicz M, Brett GR, Pais L, et al. Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10. Hum Mutat. 2021;42(1):19–24.
Article CAS PubMed Google Scholar
Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC et al. Mutations in the exocyst component EXOC2 cause severe defects in human brain development. J Exp Med. 2020;217(10).
Van Haute L, O’Connor E, Díaz-Maldonado H, Munro B, Polavarapu K, Hock DH, et al. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023;14(1):1009.
Article PubMed PubMed Central Google Scholar
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, et al. Biallelic mutations in MRPS34 lead to instability of the small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2017;101(2):239–54.
Article CAS PubMed PubMed Central Google Scholar
Hock DH, Caruana NJ, Semcesen LN, Lake NJ, Formosa LE, Amarasekera SSC et al. Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases. medRxiv. 2024:2024.08.06.24311318.
Borna NN, Kishita Y, Kohda M, Lim SC, Shimura M, Wu Y, et al. Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. Neurogenetics. 2019;20(1):9–25.
Article CAS PubMed Google Scholar
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, et al. Genetic diagnosis of mendelian disorders via RNA sequencing. Nat Commun. 2017;8:15824.
Article CAS PubMed PubMed Central Google Scholar
Grosse SD, Gudgeon JM. Cost or price of sequencing? Implications for economic evaluations in genomic medicine. Genet Sci. 2021;23(10):1833–5.
Schwarze K, Buchanan J, Taylor JC, Wordsworth S. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. Genet Sci. 2018;20(10):1122–30.
20. Santos Gonzalez F, Mordaunt D, Stark Z, Dalziel K, Christodoulou J, Goranitis I. Microcosting diagnostic genomic sequencing: A systematic review. Genetics in Medicine. 2023;25(6).
Hentschel A, Czech A, Münchberg U, Freier E, Schara-Schmidt U, Sickmann A, et al. Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases. Orphanet J Rare Dis. 2021;16(1):73.
Article PubMed PubMed Central Google Scholar
Yang L, Weng S, Qian X, Wang M, Ying W. Strategy for Microscale extraction and proteome profiling of Peripheral Blood mononuclear cells. Anal Chem. 2022;94(25):8827–32.
Article CAS PubMed Google Scholar
Barkovits K, Linden A, Galozzi S, Schilde L, Pacharra S, Mollenhauer B, et al. Characterization of Cerebrospinal Fluid via Data-Independent Acquisition Mass Spectrometry. J Proteome Res. 2018;17(10):3418–30.
Article CAS PubMed Google Scholar
Bruderer R, Muntel J, Müller S, Bernhardt OM, Gandhi T, Cominetti O, et al. Analysis of 1508 plasma samples by Capillary-Flow Data-Independent Acquisition profiles Proteomics of Weight loss and maintenance. Mol Cell Proteom. 2019;18(6):1242–54.
Muntel J, Xuan Y, Berger ST, Reiter L, Bachur R, Kentsis A, Steen H. Advancing urinary protein Biomarker Discovery by Data-Independent Acquisition on a quadrupole-orbitrap Mass Spectrometer. J Proteome Res. 2015;14(11):4752–62.
Article CAS PubMed PubMed Central Google Scholar
Schwarze K, Buchanan J, Fermont JM, Dreau H, Tilley MW, Taylor JM, et al. The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom. Genet Sci. 2020;22(1):85–94.
van Nimwegen KJM, van Soest RA, Veltman JA, Nelen MR, van der Wilt GJ, Vissers LELM, Grutters JPC. Is the $1000 genome as Near as we think? A cost analysis of Next-Generation sequencing. Clin Chem. 2016;62(11):1458–64.
Bayle A, Droin N, Besse B, Zou Z, Boursin Y, Rissel S, et al. Whole exome sequencing in molecular diagnostics of cancer decreases over time: evidence from a cost analysis in the French setting. Eur J Health Econ. 2021;22(6):855–64.
Jegathisawaran J, Tsiplova K, Hayeems RZ, Marshall CR, Stavropoulos DJ, Pereira SL et al. Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis. Genetics in Medicine. 2022((Jegathisawaran, Tsiplova, Hayeems, Ungar) Program of Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada(Hayeems, Ungar) Institute of Health Policy, Management and Evaluation, Dalla Lana School of Publ).
Briggs A, Sculpher M, Claxton K. Decision modelling for health economic evaluation. Oup Oxford; 2006.
Gordon LG, White NM, Elliott TM, Nones K, Beckhouse AG, Rodriguez-Acevedo AJ, et al. Estimating the costs of genomic sequencing in cancer control. BMC Health Serv Res. 2020;20(1):492.
Article PubMed PubMed Central Google Scholar
Frazier AE, Thorburn DR, Compton AG. Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology. J Biol Chem. 2019;294(14):5386–95.
Article CAS PubMed Google Scholar
Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, et al. Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol. 2021;20(7):573–84.
Article CAS PubMed Google Scholar
Rius R, Compton AG, Baker NL, Welch AE, Coman D, Kava MP et al. Application of genome sequencing from blood to diagnose mitochondrial diseases. Genes [Internet]. 2021; 12(4).
Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, et al. Recent advances in understanding the molecular genetic basis of mitochondrial disease. J Inherit Metab Dis. 2020;43(1):36–50.
Robert K, Dmitrii S, Sarah LS, Stefan L, Chen M, Ines FS et al. Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of mendelian disorders. medRxiv. 2021:2021.03.09.21253187.
Hock DH, Reljic B, Ang CS, Muellner-Wong L, Mountford HS, Compton AG, et al. HIGD2A is required for Assembly of the COX3 Module of Human mitochondrial complex IV. Mol Cell Proteom. 2020;19(7):1145–60.
Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, et al. Integrated multi-omics for rapid rare disease diagnosis on a national scale. Nat Med. 2023;29(7):1681–91.
Article CAS PubMed PubMed Central Google Scholar
Tucker EJ, Baker MJ, Hock DH, Warren JT, Jaillard S, Bell KM, et al. Premature ovarian insufficiency in CLPB Deficiency: transcriptomic, proteomic and phenotypic insights. J Clin Endocrinol Metab. 2022;107(12):3328–40.
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