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Mutation detection

Estimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing

Jordan Eboreime, Soo-Kung Choi, Song-Ro Yoon, Norman Arnheim, Peter Calabrese

published 24 Jun 2016

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Diagnostic Accuracy of PIK3CA Mutation Detection by Circulating Free DNA in Breast Cancer: A Meta-Analysis of Diagnostic Test Accuracy

Yidong Zhou, Changjun Wang, Hanjiang Zhu, Yan Lin, Bo Pan, Xiaohui Zhang, Xin Huang, Qianqian Xu, Yali Xu, Qiang Sun

published 23 Jun 2016

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Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research

Binbin Cao, Huifang Yan, Mangmang Guo, Han Xie, Ye Wu, Qiang Gu, Jiangxi Xiao, Jing Shang, Yanling Yang, Hui Xiong, Zhengping Niu, Xiru Wu, Yuwu Jiang, Jingmin Wang

published 20 Jun 2016

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Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing

Xiaoru Xia, Caijun Dai, Xiaochun Zhu, Qiumei Liao, Xu Luo, Yangyang Fu, Liangxing Wang

published 17 Jun 2016

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De Novo Assembly of Human Herpes Virus Type 1 (HHV-1) Genome, Mining of Non-Canonical Structures and Detection of Novel Drug-Resistance Mutations Using Short- and Long-Read Next Generation Sequencing Technologies

Timokratis Karamitros, Ian Harrison, Renata Piorkowska, Aris Katzourakis, Gkikas Magiorkinis, Jean Lutamyo Mbisa

published 16 Jun 2016

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Clinicopathologic and Molecular Features of Colorectal Adenocarcinoma with Signet-Ring Cell Component

Qing Wei, Xicheng Wang, Jing Gao, Jian Li, Jie Li, Changsong Qi, Yanyan Li, Zhongwu Li, Lin Shen

published 14 Jun 2016

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SQSTM1 Mutations and Glaucoma

Todd E. Scheetz, Ben R. Roos, Frances Solivan-Timpe, Kathy Miller, Adam P. DeLuca, Edwin M. Stone, Young H. Kwon, Wallace L. M. Alward, Kai Wang, John H. Fingert

published 08 Jun 2016

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Multiplex Assay for Simultaneous Detection of Mycoplasma genitalium and Macrolide Resistance Using PlexZyme and PlexPrime Technology

Sepehr N. Tabrizi, Lit Y. Tan, Samantha Walker, Jimmy Twin, Marin Poljak, Catriona S. Bradshaw, Christopher K. Fairley, Melanie Bissessor, Elisa Mokany, Alison V. Todd, Suzanne M. Garland

published 06 Jun 2016

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MGMT Promoter Methylation and BRAF V600E Mutations Are Helpful Markers to Discriminate Pleomorphic Xanthoastrocytoma from Giant Cell Glioblastoma

Laura-Nanna Lohkamp, Maren Schinz, Claire Gehlhaar, Katrin Guse, Ulrich-Wilhelm Thomale, Peter Vajkoczy, Frank L. Heppner, Arend Koch

published 02 Jun 2016

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Multiplex Real-Time PCR Assays that Measure the Abundance of Extremely Rare Mutations Associated with Cancer

Diana Y. Vargas, Fred Russell Kramer, Sanjay Tyagi, Salvatore A. E. Marras

published 31 May 2016

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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong, Working Group

published 31 May 2016

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High-Efficiency Capture of Drug Resistant-Influenza Virus by Live Imaging of Sialidase Activity

Yuuki Kurebayashi, Tadanobu Takahashi, Chihiro Tamoto, Keiji Sahara, Tadamune Otsubo, Tatsuya Yokozawa, Nona Shibahara, Hirohisa Wada, Akira Minami, Kiyoshi Ikeda, Takashi Suzuki

published 27 May 2016

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Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences

Kohei Fujikura

published 24 May 2016

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