المؤلفون: Reis, A.L.M., Rapadas, M., Hammond, J.M., Gamaarachchi, H., Stevanovski, I., Ayuputeri Kumaheri, M., Chintalaphani, S.R., Dissanayake, D.S.B., Siggs, O.M., Hewitt, A.W., Llamas, B., Brown, A., Baynam, G., Mann, G.J., McMorran, B.J., Easteal, S., Hermes, A., Jenkins, M.R., National Centre for Indigenous Genomics, Patel, H.R.

المصدر: http://dx.doi.org/10.1038/s41586-023-06842-7Test.

مصطلحات موضوعية: Genetic variation, Medical genomics, Next-generation sequencing, Structural variation, Humans, Genetics, Medical, Genomics, Interspersed Repetitive Sequences, Microsatellite Repeats, Alleles, Genome, Human, Australia, INDEL Mutation, Genetic Loci, Genomic Structural Variation, DNA Copy Number Variations, Datasets as Topic, Australian Aboriginal and Torres Strait Islander Peoples

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/2011277Test; http://purl.org/au-research/grants/nhmrc/2021172Test; Nature, 2023; 624(7992):602-610; https://hdl.handle.net/2440/140525Test; Llamas, B. [0000-0002-5550-9176]; Brown, A. [0000-0003-2112-3918]

الإتاحة: https://doi.org/10.1038/s41586-023-06842-7Test
https://hdl.handle.net/2440/140525Test

المؤلفون: French, H.J., Anderson, S., Deveson, I.W., Stevanovski, I., Nelson, A., Matthews, S., Gou, M., Cheong, P.L., Trent, R.J., Ho, P.J.

المصدر: Pathology ; volume 54, page S73-S74 ; ISSN 0031-3025

مصطلحات موضوعية: Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1016/j.pathol.2021.12.242Test
https://api.elsevier.com/content/article/PII:S0031302521007856?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0031302521007856?httpAccept=text/plainTest

المؤلفون: Kim, KW, Deveson, IW, Pang, CNI, Yeang, M, Naing, Z, Adikari, T, Hammond, JM, Stevanovski, I, Beukers, AG, Verich, A, Yin, S, McFarlane, D, Wilkins, MR, Stelzer-Braid, S, Bull, RA, Craig, ME, van Hal, SJ, Rawlinson, WD

المصدر: urn:ISSN:2045-2322 ; Scientific Reports, 11, 1, 3934

مصطلحات موضوعية: Infectious Diseases, Biodefense, Pneumonia & Influenza, Pneumonia, Emerging Infectious Diseases, Vaccine Related, Lung, Prevention, Infection, 3 Good Health and Well Being, Australia, COVID-19, Coinfection, Computational Biology, Genome, Viral, Humans, Open Reading Frames, Reproducibility of Results, SARS-CoV-2, Sequence Analysis, DNA, Virome, Whole Genome Sequencing

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_74309Test; https://unsworks.unsw.edu.au/bitstreams/304ce843-9e8d-43cf-8c17-17e6ee3e7df4/downloadTest; https://doi.org/10.1038/s41598-021-83642-xTest

الإتاحة: https://doi.org/10.1038/s41598-021-83642-xTest
http://hdl.handle.net/1959.4/unsworks_74309Test
https://unsworks.unsw.edu.au/bitstreams/304ce843-9e8d-43cf-8c17-17e6ee3e7df4/downloadTest

المؤلفون: Stevanovski I., Chintalaphani S. R., Gamaarachchi H., Ferguson J. M., Pineda S. S., Scriba C. K., Tchan M., Fung V., Ng K., Cortese A., Houlden H., Dobson-Stone C., Fitzpatrick L., Halliday G., Ravenscroft G., Davis M. R., Laing N. G., Fellner A., Kennerson M., Kumar K. R., Deveson I. W.

المساهمون: Stevanovski, I., Chintalaphani, S. R., Gamaarachchi, H., Ferguson, J. M., Pineda, S. S., Scriba, C. K., Tchan, M., Fung, V., Ng, K., Cortese, A., Houlden, H., Dobson-Stone, C., Fitzpatrick, L., Halliday, G., Ravenscroft, G., Davis, M. R., Laing, N. G., Fellner, A., Kennerson, M., Kumar, K. R., Deveson, I. W.

مصطلحات موضوعية: DNA, Copy Number Variation, Whole Genome Sequencing

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35245110; info:eu-repo/semantics/altIdentifier/wos/WOS:000790020300018; volume:8; issue:9; firstpage:eabm5386; journal:SCIENCE ADVANCES; http://hdl.handle.net/11571/1452247Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85125804052

الإتاحة: https://doi.org/10.1126/sciadv.abm5386Test
http://hdl.handle.net/11571/1452247Test

المؤلفون: Thientosapol, ES, Sharbeen, G, Edwin Lau, KK, Bosnjak, D, Durack, T, Stevanovski, I, Weninger, W, Jolly, CJ

المصدر: urn:ISSN:0305-1048 ; urn:ISSN:1362-4962 ; Nucleic Acids Research, 45, 6, 3146-3157

مصطلحات موضوعية: Genetics, Adoptive Transfer, Animals, Base Pairing, Base Sequence, Cytidine Deaminase, DNA Mismatch Repair, DNA Repair, Male, Mice, Inbred C57BL, Mutation, Uracil, Uracil-DNA Glycosidase, anzsrc-for: 05 Environmental Sciences, anzsrc-for: 06 Biological Sciences, anzsrc-for: 08 Information and Computing Sciences

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_57335Test; https://unsworks.unsw.edu.au/bitstreams/b146c6ed-fcaf-414c-8cd9-d852ee08860a/downloadTest; https://doi.org/10.1093/nar/gkw1300Test

الإتاحة: https://doi.org/10.1093/nar/gkw1300Test
http://hdl.handle.net/1959.4/unsworks_57335Test
https://unsworks.unsw.edu.au/bitstreams/b146c6ed-fcaf-414c-8cd9-d852ee08860a/downloadTest

المؤلفون: Olivé, M., Stevanovski, I., Quereda, L. González, Morris, G., Segarra-Casas, A., Rodriguez-Santiago, B., Gallano, P., Alvarez, R., Vesperinas, A., Millan, B. San, Navarro, C., Ravenscroft, G., Illa, I., Deveson, I., Gallardo, E.

المصدر: Neuromuscular Disorders ; volume 32, page S110 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2022.07.284Test
https://api.elsevier.com/content/article/PII:S0960896622004862?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896622004862?httpAccept=text/plainTest