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53 results

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Page 1
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E, Andrews J, Lawrence DM, King-Smith SL, Baker N, Baxter L, Beilby J, Bennetts B, Beshay V, Black M, Boughtwood TF, Brion K, Cheong PL, Christie M, Christodoulou J, Chong B, Cox K, Davis MR, Dejong L, Dinger ME, Doig KD, Douglas E, Dubowsky A, Ellul M, Fellowes A, Fisk K, Fortuno C, Friend K, Gallagher RL, Gao S, Hackett E, Hadler J, Hipwell M, Ho G, Hollway G, Hooper AJ, Kassahn KS, Krishnaraj R, Lau C, Le H, San Leong H, Lundie B, Lunke S, Marty A, McPhillips M, Nguyen LT, Nones K, Palmer K, Pearson JV, Quinn MCJ, Rawlings LH, Sadedin S, Sanchez L, Schreiber AW, Sigalas E, Simsek A, Soubrier J, Stark Z, Thompson BA, U J, Vakulin CG, Wells AV, Wise CA, Woods R, Ziolkowski A, Brion MJ, Scott HS, Thorne NP, Spurdle AB; Shariant Consortium. Tudini E, et al. Among authors: doig kd. Am J Hum Genet. 2022 Nov 3;109(11):1960-1973. doi: 10.1016/j.ajhg.2022.10.006. Am J Hum Genet. 2022. PMID: 36332611 Free PMC article. Review.
Canary: an atomic pipeline for clinical amplicon assays.
Doig KD, Ellul J, Fellowes A, Thompson ER, Ryland G, Blombery P, Papenfuss AT, Fox SB. Doig KD, et al. BMC Bioinformatics. 2017 Dec 15;18(1):555. doi: 10.1186/s12859-017-1950-z. BMC Bioinformatics. 2017. PMID: 29246107 Free PMC article.
Circulating tumour DNA reflects treatment response and clonal evolution in chronic lymphocytic leukaemia.
Yeh P, Hunter T, Sinha D, Ftouni S, Wallach E, Jiang D, Chan YC, Wong SQ, Silva MJ, Vedururu R, Doig K, Lam E, Arnau GM, Semple T, Wall M, Zivanovic A, Agarwal R, Petrone P, Jones K, Westerman D, Blombery P, Seymour JF, Papenfuss AT, Dawson MA, Tam CS, Dawson SJ. Yeh P, et al. Among authors: doig k. Nat Commun. 2017 Mar 17;8:14756. doi: 10.1038/ncomms14756. Nat Commun. 2017. PMID: 28303898 Free PMC article.
53 results