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Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge and Ivo J P Arnhold

were not analysed in the entire cohort. Moreover, as the clinical phenotype is highly variable, we cannot assure that all possible causative genes were excluded ( 4 ). The use of massive parallel sequencing, mostly targeted sequencing panel or whole

Open access

Zofia Kolesinska, James Acierno Jr, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud and Marek Niedziela

parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development . Clinical Genetics 2013 83 35 – 43 . ( https://doi.org/10.1111/j.1399-0004.2012.01879.x ) 25 Kim JH Kang E Heo SH Kim GH Jang JH Cho EH Lee

Open access

L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen and T R P Cole

Sandberg DE Grody WW Nelson SF Vilain E . Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development . Clinical Genetics 2013 83 35 – 43 . ( https://doi.org/10.1111/j.1399

Open access

Tiemo S Gerber, Arno Schad, Nils Hartmann, Erik Springer, Ulrich Zechner and Thomas J Musholt

according to the manufacturer’s instructions. The MiSeq System (Illumina) was used to launch the massively parallel sequencing process to capture the exons of 48 genes with 212 amplicons. Data analysis Using the TruSeq Amplicon Workflow on the MiSeq

Open access

Lijuan Yuan, Xihui Chen, Ziyu Liu, Dan Wu, Jianguo Lu, Guoqiang Bao, Sijia Zhang, Lifeng Wang and Yuanming Wu

massively parallel whole-genome resequencing . Genome Research 2009 19 1124 – 1132 . ( https://doi.org/10.1101/gr.088013.108 ) 19420381 10.1101/gr.088013.108 19 Li R Yu C Li Y Lam TW Yiu SM Kristiansen K Wang J. SOAP2: an improved ultrafast tool

Open access

K G Samsom, L M van Veenendaal, G D Valk, M R Vriens, M E T Tesselaar and J G van den Berg

, by massively parallel exome sequencing and detected a low mutation rate in the SI-NET genomes with an average of 0.1 somatic single-nucleotide variants (SNVs) per 10 6 nucleotides in the exome, suggesting that SI-NETs are mutationally quiet tumours

Open access

Luigi Laino, Silvia Majore, Nicoletta Preziosi, Barbara Grammatico, Carmelilia De Bernardo, Salvatore Scommegna, Anna Maria Rapone, Giacinto Marrocco, Irene Bottillo and Paola Grammatico

for the correct clinical management of neonates in cases of ambiguous genitalia. Moreover, the introduction of new technologies for massive parallel sequencing is becoming helpful for the molecular characterization of patients with DSD by analyzing