Résultats de la recherche - Nguyen-Dumont, T
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ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets par Pope, Bernard J, Nguyen-Dumont, Tú, Hammet, Fleur, Park, Daniel J
Publié 2014Texte -
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Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots par Nguyen-Dumont, T, Mahmoodi, M, Hammet, F, Tran, T, Tsimiklis, H, Giles, GG, Hopper, JL, Southey, MC, Park, DJ
Publié 2014Texte -
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Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing par Nguyen-Dumont, Tú, Pope, Bernard J., Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Southey, Melissa C., Park, Daniel J.
Publié 2013Texte -
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Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus par Sonia Garritano, Federica Gemignani, Catherine Voegele, Tú Nguyen‐Dumont, Florence Le Calvez‐Kelm, Deepika de Silva, Fabienne Lesueur, Stefano Landi, Sean V. Tavtigian
Publié 2009Artigo -
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Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus par Garritano, Sonia, Gemignani, Federica, Voegele, Catherine, Nguyen-Dumont, Tú, Le Calvez-Kelm, Florence, De Silva, Deepika, Lesueur, Fabienne, Landi, Stefano, Tavtigian, Sean V
Publié 2009Texte -
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Expanded genetic analysis of a PALB2 c.3113G>A mutation carrying multiple-case breast cancer family via exome sequencing par Teo, ZL, Park, DJ, Odefrey, F, Hammet, F, Nguyen-Dumont, T, Tsimiklis, H, Pope, BJ, Lonie, A, Winship, I, Giles, GG, Hopper, JL, Southey, MC
Publié 2012Texte -
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Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM par Renault, Anne-Laure, Dowty, James G., Steen, Jason A., Li, Shuai, Winship, Ingrid M., Giles, Graham G., Hopper, John L., Southey, Melissa C., Nguyen-Dumont, Tú
Publié 2022Texte -
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Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2 par Nguyen-Dumont, Tú, Jordheim, Lars P, Michelon, Jocelyne, Forey, Nathalie, McKay-Chopin, Sandrine, Sinilnikova, Olga, Le Calvez-Kelm, Florence, Southey, Melissa C, Tavtigian, Sean V, Lesueur, Fabienne
Publié 2011Texte -
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FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets par Pope, Bernard J, Nguyen-Dumont, Tú, Odefrey, Fabrice, Hammet, Fleur, Bell, Russell, Tao, Kayoko, Tavtigian, Sean V, Goldgar, David E, Lonie, Andrew, Southey, Melissa C, Park, Daniel J
Publié 2013Texte -
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Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families par Zhi L. Teo, Daniel J. Park, Elena Provenzano, Catherine Chatfield, Fabrice Odefrey, Tú Nguyen‐Dumont, James G. Dowty, John L. Hopper, Ingrid Winship, David E. Goldgar, Melissa C. Southey
Publié 2013Artigo -
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Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis par Nguyen-Dumont, Tú, Calvez-Kelm, Florence Le, Forey, Nathalie, McKay-Chopin, Sandrine, Garritano, Sonia, Gioia-Patricola, Lydie, De Silva, Deepika, Weigel, Ron, Sangrajrang, Suleeporn, Lesueur, Fabienne, Tavtigian, Sean V.
Publié 2009Texte -
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Association of variably methylated tumour DNA regions with overall survival for invasive lobular breast cancer par Suman, Medha, Dugué, Pierre-Antoine, Wong, Ee Ming, Joo, JiHoon Eric, Hopper, John L., Nguyen-Dumont, Tu, Giles, Graham G., Milne, Roger L., McLean, Catriona, Southey, Melissa C.
Publié 2021Texte -
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Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families par Teo, Zhi L, Park, Daniel J, Provenzano, Elena, Chatfield, Catherine A, Odefrey, Fabrice A, Nguyen-Dumont, Tu, Dowty, James G, Hopper, John L, Winship, Ingrid, Goldgar, David E, Southey, Melissa C
Publié 2013Texte -
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FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine par Nguyen-Dumont, Tú, Myszka, Aleksander, Karpinski, Pawel, Sasiadek, Maria M., Akopyan, Hayane, Hammet, Fleur, Tsimiklis, Helen, Park, Daniel J., Pope, Bernard J., Slezak, Ryszard, Kitsera, Nataliya, Siekierzynska, Aleksandra, Southey, Melissa C.
Publié 2018Texte -
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Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine par Myszka, Aleksander, Nguyen-Dumont, Tu, Karpinski, Pawel, Sasiadek, Maria M., Akopyan, Hayane, Hammet, Fleur, Tsimiklis, Helen, Park, Daniel J., Pope, Bernard J., Slezak, Ryszard, Kitsera, Nataliya, Siekierzynska, Aleksandra, Southey, Melissa C.
Publié 2017Texte
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