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收藏Future-proofing genomic data and consent management: a comprehensive review of technology innovations
Oliva, Adrien; Kaphle, Anubhav; Reguant, Roc; Sng, Letitia M. F.; Twine, Natalie A.; Malakar, Yuwan; Wickramarachchi, Anuradha; Keller, Marcel; Ranbaduge, Thilina; Chan, Eva K. F.; Breen, James; Buckberry, Sam; Guennewig, Boris; Haas, Matilda; Brown, Alex; Cowley, Mark J.; Thorne, Natalie; Jain, Yatish; Bauer, Denis C.
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收藏Scalable genomic data exchange and analytics with sBeacon
Wickramarachchi, Anuradha; Hosking, Brendan; Jain, Yatish; Grimes, John; O'Brien, Mitchell J.; Wright, Tracey; Burgess, Mark A.; Lin, Victor San Kho; Reisinger, Florian; Hofmann, Oliver; Lawley, Michael; Wilson, Laurence O. W.; Twine, Natalie A.; Bauer, Denis C.
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收藏Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening
Shum, Bennett Oh Vic; Pretorius, Carel Jacobus; Sng, Letitia Min Fen; Henner, Ilya; Barahona, Paulette; Basar, Emre; McGill, Jim; Wilgen, Urs; Zournazi, Anna; Downie, Lilian; Taylor, Natalie; Cheney, Liam; Wu, Sylvania; Twine, Natalie Angela; Bauer, Denis Carolin; Watts, Gerald Francis; Navilebasappa, Akash; Kumar, Kishore Rajagopal; Ungerer, Jacobus Petrus Johannes; Bennett, Glenn
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收藏Optimized nickase- and nuclease-based prime editing in human and mouse cells
Adikusuma, Fatwa; Lushington, Caleb; Arudkumar, Jayshen; Godahewa, Gelshan, I; Chey, Yu C. J.; Gierus, Luke; Piltz, Sandra; Geiger, Ashleigh; Jain, Yatish; Reti, Daniel; Wilson, Laurence O. W.; Bauer, Denis C.; Thomas, Paul Q.
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收藏Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis
Fifita, Jennifer A.; Chan Moi Fat, Sandrine; McCann, Emily P.; Williams, Kelly L.; Twine, Natalie A.; Bauer, Denis C.; Rowe, Dominic B.; Pamphlett, Roger; Kiernan, Matthew C.; Tan, Vanessa X.; Blair, Ian P.; Guillemin, Gilles J.
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收藏Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis澳大利亚家族性和散发性肌萎缩性侧索硬化症中GLT8D1和ARPP21的遗传分析
Fat, Sandrine Chan Moi; McCann, Emily P.; Williams, Kelly L.; Henden, Lyndal; Twine, Natalie A.; Bauer, Denis C.; Pamphlett, Roger; Kiernan, Matthew C.; Rowe, Dominic B.; Nicholson, Garth A.; Fifita, Jennifer A.; Blair, Ian P.
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收藏Interoperable medical data: The missing link for understanding COVID-19
Bauer, Denis C.; Metke-Jimenez, Alejandro; Maurer-Stroh, Sebastian; Tiruvayipati, Suma; Wilson, Laurence O. W.; Jain, Yatish; Perrin, Amandine; Ebrill, Kate; Hansen, David P.; Vasan, Seshadri S.
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收藏VariantSpark: Cloud-based machine learning for association study of complex phenotype and large-scale genomic data
Bayat, Arash; Szul, Piotr; O'Brien, Aidan R.; Dunne, Robert; Hosking, Brendan; Jain, Yatish; Hosking, Cameron; Luo, Oscar J.; Twine, Natalie; Bauer, Denis C.
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收藏Supporting pandemic response using genomics and bioinformatics: A case study on the emergent SARS-CoV-2 outbreak
Bauer, Denis C.; Tay, Aidan P.; Wilson, Laurence O. W.; Reti, Daniel; Hosking, Cameron; McAuley, Alexander J.; Pharo, Elizabeth; Todd, Shawn; Stevens, Vicky; Neave, Matthew J.; Tachedjian, Mary; Drew, Trevor W.; Vasan, Seshadri S.
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