Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Autor: Tudini E; Australian Genomics, Melbourne, VIC 3052, Australia; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Andrews J; Australian Genomics, Melbourne, VIC 3052, Australia; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia., Lawrence DM; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia., King-Smith SL; Australian Genomics, Melbourne, VIC 3052, Australia; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Baker N; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia., Baxter L; Pathology Queensland, Brisbane, QLD 4006, Australia., Beilby J; PathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia; School of Biomedical Sciences, The University of Western Australia, Perth, WA 6009, Australia., Bennetts B; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW 2145, Australia., Beshay V; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia., Black M; Department of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia., Boughtwood TF; Australian Genomics, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Brion K; Pathology Queensland, Brisbane, QLD 4006, Australia., Cheong PL; Department of Medical Genomics, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, NSW 2050, Australia; University of Sydney, Sydney, NSW 2006, Australia., Christie M; Department of Pathology, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia., Christodoulou J; Australian Genomics, Melbourne, VIC 3052, Australia; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW 2145, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Cox K; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia; Centre for Medical Research, The University of Western Australia, Perth, WA 6009, Australia., Dejong L; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Dinger ME; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia., Doig KD; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC 3052, Australia., Douglas E; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Dubowsky A; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Ellul M; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Fellowes A; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia., Fisk K; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Fortuno C; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Gallagher RL; Pathology Queensland, Brisbane, QLD 4006, Australia., Gao S; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Hackett E; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Hadler J; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Hipwell M; Division of Molecular Medicine, NSW Health Pathology North, Newcastle, NSW 2305, Australia., Ho G; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW 2145, Australia., Hollway G; Garvan Institute of Medical Research, Sydney, NSW 2010, Australia; Cancer Research, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Hooper AJ; Department of Clinical Biochemistry, PathWest Laboratory Medicine Western Australia, Fiona Stanley Hospital Network, Perth, WA 6150, Australia; School of Medicine, The University of Western Australia, Perth, WA 6009, Australia., Kassahn KS; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, SA 5000, Australia., Krishnaraj R; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Lau C; Pathology Queensland, Brisbane, QLD 4006, Australia; The University of Queensland, Brisbane, QLD 4072, Australia., Le H; Department of Medical Genomics, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, NSW 2050, Australia., San Leong H; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC 3052, Australia., Lundie B; Pathology Queensland, Brisbane, QLD 4006, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia., Marty A; Melbourne Genomics Health Alliance, Melbourne, VIC 3052, Australia., McPhillips M; Division of Molecular Medicine, NSW Health Pathology North, Newcastle, NSW 2305, Australia., Nguyen LT; Department of Clinical Biochemistry, PathWest Laboratory Medicine Western Australia, Fiona Stanley Hospital Network, Perth, WA 6150, Australia., Nones K; Cancer Research, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Palmer K; Genomics Statewide Services, New South Wales Health Pathology, Newcastle, NSW 2300, Australia., Pearson JV; Genome Informatics, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Quinn MCJ; Australian Genomics, Melbourne, VIC 3052, Australia; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4006, Australia., Rawlings LH; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Sadedin S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Sanchez L; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Schreiber AW; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia; School of Biological Sciences, The University of Adelaide, Adelaide, SA 5005, Australia., Sigalas E; Department of Pathology, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia., Simsek A; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Soubrier J; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia; School of Biological Sciences, The University of Adelaide, Adelaide, SA 5005, Australia., Stark Z; Australian Genomics, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia., Thompson BA; Department of Pathology, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia., U J; Melbourne Genomics Health Alliance, Melbourne, VIC 3052, Australia., Vakulin CG; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Wells AV; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Wise CA; Department of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Perth, WA 6009, Australia., Woods R; Pathology Queensland, Brisbane, QLD 4006, Australia., Ziolkowski A; Division of Molecular Medicine, NSW Health Pathology North, Newcastle, NSW 2305, Australia., Brion MJ; Australian Genomics, Melbourne, VIC 3052, Australia; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Scott HS; Australian Genomics, Melbourne, VIC 3052, Australia; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA 5000, Australia; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, SA 5000, Australia., Thorne NP; Australian Genomics, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Melbourne Genomics Health Alliance, Melbourne, VIC 3052, Australia; Walter and Eliza Hall Institute, Melbourne, VIC 3052, Australia., Spurdle AB; Australian Genomics, Melbourne, VIC 3052, Australia; Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia. Electronic address: amanda.spurdle@qimrberghofer.edu.au.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Nov 03; Vol. 109 (11), pp. 1960-1973.

Evaluation of computational programs to predict HLA genotypes from genomic sequencing data.

Autor: Bauer DC; CSIRO, Sydney, Australia., Zadoorian A; CSIRO, Sydney, Australia.; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia., Wilson LOW; CSIRO, Sydney, Australia., Thorne NP; Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Australia.; Melbourne Genomics Health Alliance, Parkville, Australia.; Walter and Eliza Hall Institute, Parkville, Australia.

Publikováno v: Briefings in bioinformatics [Brief Bioinform] 2018 Mar 01; Vol. 19 (2), pp. 179-187.

Uncovering a multitude of stage-specific splice variants and putative protein isoforms generated along mouse spermatogenesis.

Autor: Romeo-Cardeillac, Carlos^1,2 (AUTHOR), Trovero, María Fernanda^1,3 (AUTHOR), Radío, Santiago² (AUTHOR), Smircich, Pablo² (AUTHOR), Rodríguez-Casuriaga, Rosana¹ (AUTHOR), Geisinger, Adriana^1,4 (AUTHOR) adriana.geisinger@gmail.com, Sotelo-Silveira, José^2,5 (AUTHOR) jsotelosilveira@iibce.edu.uy

Publikováno v: BMC Genomics. 3/20/2024, Vol. 25 Issue 1, p1-17. 17p.

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

Autor: Walsh M; Murdoch Childrens Research Institute Melbourne Australia.; Royal Melbourne Hospital Melbourne Australia., Bell KM; Murdoch Childrens Research Institute Melbourne Australia., Chong B; Murdoch Childrens Research Institute Melbourne Australia., Creed E; Royal Melbourne Hospital Melbourne Australia.; Melbourne Genomics Health Alliance Melbourne Australia., Brett GR; Murdoch Childrens Research Institute Melbourne Australia.; Melbourne Genomics Health Alliance Melbourne Australia., Pope K; Murdoch Childrens Research Institute Melbourne Australia., Thorne NP; Melbourne Genomics Health Alliance Melbourne Australia.; Murdoch Childrens Research Institute Melbourne Australia.; University of Melbourne Melbourne Australia., Sadedin S; Murdoch Childrens Research Institute Melbourne Australia., Georgeson P; University of Melbourne Melbourne Australia., Phelan DG; Murdoch Childrens Research Institute Melbourne Australia., Day T; Royal Melbourne Hospital Melbourne Australia., Taylor JA; Royal Melbourne Hospital Melbourne Australia., Sexton A; Royal Melbourne Hospital Melbourne Australia., Lockhart PJ; Murdoch Childrens Research Institute Melbourne Australia.; Bruce Lefroy Centre Murdoch Childrens Research Institute Parkville Australia.; Department of Paediatrics The University of Melbourne Melbourne Australia., Kiers L; Royal Melbourne Hospital Melbourne Australia., Fahey M; Royal Melbourne Hospital Melbourne Australia., Macciocca I; Murdoch Childrens Research Institute Melbourne Australia.; Melbourne Genomics Health Alliance Melbourne Australia., Gaff CL; Melbourne Genomics Health Alliance Melbourne Australia.; University of Melbourne Melbourne Australia., Oshlack A; Murdoch Childrens Research Institute Melbourne Australia.; University of Melbourne Melbourne Australia., Yiu EM; Bruce Lefroy Centre Murdoch Childrens Research Institute Parkville Australia.; Department of Paediatrics The University of Melbourne Melbourne Australia.; Royal Children's Hospital Melbourne Australia., James PA; Royal Melbourne Hospital Melbourne Australia.; University of Melbourne Melbourne Australia., Stark Z; Murdoch Childrens Research Institute Melbourne Australia., Ryan MM; Murdoch Childrens Research Institute Melbourne Australia.; Melbourne Genomics Health Alliance Melbourne Australia.; Department of Paediatrics The University of Melbourne Melbourne Australia.; Royal Children's Hospital Melbourne Australia.

Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2017 Apr 26; Vol. 4 (5), pp. 318-325. Date of Electronic Publication: 2017 Apr 26 (Print Publication: 2017).

乳がんにおけるmicroRNA-205-5pの働きについて.

Autor: 酒巻 利行¹ sakamaki@nupals.ac.jp

Publikováno v: Research on Drug Interactions. 2024, Vol. 48 Issue 1, p2-7. 6p.