Research outputs

Publications

All peer-reviewed publications till date

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2024Analysis of Tandem Repeats in Short-Read Sequencing Data: From Genotyping Known Pathogenic Repeats to Discovering Novel ExpansionsHalman, A, Lonsdale, A, Oshlack, ACurrent Protocols, doi: 10.1002/cpz1.70010Rare Diseases 2023Toblerone: detecting exon deletion events in cancer using RNA-seqLonsdale, A, Halman, A, Brown, L, Kosasih, H, Ekert, P, Oshlack, AF1000Research, doi: 10.12688/f1000research.129490.1Rare Diseases 2023Integrated multi-omics for rapid rare disease diagnosis on a national scaleLunke, S, Bouffler, S, Patel, C, Sandaradura, S, Wilson, M, Pinner, J, Hunter, M, Barnett, C, Wallis, M, Kamien, B, Tan, T, Freckmann, M, Chong, B, Phelan, D, Francis, D, Kassahn, K, Ha, T, Gao, S, Arts, P, Jackson, M, Scott, H, Eggers, S, Rowley, S, Boggs, K, Rakonjac, A, Brett, G, de Silva, M, Springer, A, Ward, M, Stallard, K, Simons, C, Conway, T, Halman, A, Van Bergen, N, Sikora, T, Semcesen, L, Stroud, D, Compton, A, Thorburn, D, Bell, K, Sadedin, S, North, K, Christodoulou, J, Stark, ZNature Medicine, doi: 10.1038/s41591-023-02401-9Rare Diseases 2022STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing dataHalman, A, Dolzhenko, E, Oshlack, AHuman Mutation, doi: 10.1002/humu.24382Rare Diseases 2022REViewer: haplotype-resolved visualization of read alignments in and around tandem repeatsDolzhenko, E, Weisburd, B, Ibañez, K, Rajan-Babu, I, Anyansi, C, Bennett, M, Billingsley, K, Carroll, A, Clamons, S, Danzi, M, Deshpande, V, Ding, J, Fazal, S, Halman, A, Jadhav, B, Qiu, Y, Richmond, P, Saunders, C, Scheffler, K, van Vugt, J, Zwamborn, R, Genomics England Research Consortium, Chong, S, Friedman, J, Tucci, A, Rehm, H, Eberle, MGenome Medicine, doi: 10.1186/s13073-022-01085-zRare Diseases 2020Accuracy of short tandem repeats genotyping tools in whole exome sequencing dataHalman, A, Oshlack, AF1000Research, doi: 10.12688/f1000research.22639.1Rare Diseases 2018STRetch: detecting and discovering pathogenic short tandem repeat expansionsDashnow, H, Lek, M, Phipson, B, Halman, A, Sadedin, S, Lonsdale, A, Davis, M, Lamont, P, Clayton, J, Laing, N, MacArthur, D, Oshlack, AGenome Biology, doi: 10.1186/s13059-018-1505-2Rare Diseases