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3por Walker, Logan C., Lattimore, Vanessa Lilian, Kvist, Anders, Kleiblova, Petra, Zemankova, Petra, de Jong, Lucy, Wiggins, George A. R., Hakkaart, Christopher, Cree, Simone L., Behar, Raquel, Houdayer, Claude, Investigators, kConFab, Parsons, Michael T., Kennedy, Martin A., Spurdle, Amanda B., de la Hoya, Miguel“…We present the most comprehensive assessment of BARD1 messenger RNA splicing, and demonstrate the application of these data for the classification of truncating and splice site variants according to American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines. …”
Publicado 2019
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5por Laraqui, Abdelilah, Cavaillé, Mathias, Uhrhammer, Nancy, ElBiad, Oubaida, Bidet, Yannick, El Rhaffouli, Hicham, El Anaz, Hicham, Rahali, Driss Moussaoui, Kouach, Jaouad, Guelzim, Khaled, Badaoui, Bouabid, AlBouzidi, Abderrahman, Oukabli, Mohammed, Tanz, Rachid, Sbitti, Yasser, Ichou, Mohammed, Ennibi, Khaled, Sekhsokh, Yassine, Bignon, Yves-Jean“…Our MGPT allowed identification of several sequence variations in most investigated genes, among which we found novel truncating variations in PALB2 and BARD1 genes. The PALB2 c.3290dup and BARD1 c.1333G>T variants are classified as pathogenic. …”
Publicado 2021
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7por Dupont, Vincent, Gamblin, Claire, Bard, Mathieu, Julien, Gautier, Bonnivard, Michel, Champenois, Vanessa, Goury, Antoine, Mourvillier, BrunoEnlace del recurso
Publicado 2021
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8por Hu, Wan-Hsiang, Chen, Hong-Hwa, Lee, Ko-Chao, Liu, Lin, Eisenstein, Samuel, Parry, Lisa, Cosman, Bard, Ramamoorthy, SoniaEnlace del recurso
Publicado 2016
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9por Oca, Michael C, Meller, Leo, Wilson, Katherine, Parikh, Alomi O, McCoy, Allison, Chang, Jessica, Sudharshan, Rasika, Gupta, Shreya, Zhang-Nunes, Sandy“…ChatGPT (73.8%), Bing Chat (67.5%), and Bard (62.5%) gave high rates of inaccurate recommendations. …”
Publicado 2023
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10por Biri, Sairavi Kiran, Kumar, Subir, Panigrahi, Muralidhar, Mondal, Shaikat, Behera, Joshil Kumar, Mondal, Himel“…Among AI-based technology, large language models (LLMs) such as ChatGPT, Google Bard, Microsoft Bing, and Perplexity have emerged as powerful tools with capabilities in natural language processing. …”
Publicado 2023
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11por ARSLAN ATES, Esra, TURKYILMAZ, Ayberk, ALAVANDA, Ceren, YILDIRIM, Ozlem, GUNEY, Ahmet Ilter“…In addition, 25 HCS-related genes were sequenced using a multigene panel, and variations were classified according to the American College of Medical Genetics and Genomics (ACMG) criteria. …”
Publicado 2022
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12por Zhang, Haoran, Zhang, Dongming, Liu, Jia, Shi, Yuequan, Liu, Xiaoyan, Chen, Minjiang, Zhong, Wei, Zhao, Jing, Xu, Yan, Wang, Mengzhao“…METHODS: We first examined 74 DDR genes involved in seven DDR pathways and then focused on six specific genes: ATM, BRCA1, BRCA2, CHEK1, BARD1, and BRIP1. A total of 179 stage I and IIIa NSCLC patients who received curative resection in Peking Union Medical College Hospital and their corresponding samples were collected for DNA sequencing, immunohistochemistry and survival analysis. …”
Publicado 2023
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13por Esteban-Jurado, Clara, Vila-Casadesús, Maria, Garre, Pilar, Lozano, Juan José, Pristoupilova, Anna, Beltran, Sergi, Muñoz, Jenifer, Ocaña, Teresa, Balaguer, Francesc, López-Cerón, Maria, Cuatrecasas, Miriam, Franch-Expósito, Sebastià, Piqué, Josep M., Castells, Antoni, Carracedo, Angel, Ruiz-Ponte, Clara, Abulí, Anna, Bessa, Xavier, Andreu, Montserrat, Bujanda, Luis, Caldés, Trinidad, Castellví-Bel, SergiEnlace del recurso
Publicado 2015
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14por Liu, Yinfeng, Zheng, Jie, Xu, Yue, Lv, Ji, Wu, Zizheng, Feng, Kai, Liu, Jiani, Yan, Weitao, Wei, Liguang, Zhao, Jiangman, Jiang, Lisha, Han, Meng“…The most frequently mutated genes were ALK (22.2%), BARD1 (15.6%), and BRCA2 (15.0%). ACMG classification identified 7% of patients harboring Pathogenic/Likely Pathogenic (P/LP) variants, with one case displaying a pathogenic BRCA1 mutation linked to triple-negative breast cancer (TNBC). …”
Publicado 2023
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