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Dideoxy DNA sequencing

Comprehensive Molecular Profiling of Archival Bone Marrow Trephines Using a Commercially Available Leukemia Panel and Semiconductor-Based Targeted Resequencing

Stephan Bartels, Elisa Schipper, Hans Heinrich Kreipe, Ulrich Lehmann

published 29 Jul 2015

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Implementation of Cell Samples as Controls in National Proficiency Testing for Clopidogrel Therapy-Related CYP2C19 Genotyping in China: A Novel Approach

Guigao Lin, Lang Yi, Kuo Zhang, Lunan Wang, Rui Zhang, Jiehong Xie, Jinming Li

published 28 Jul 2015

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Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso

published 21 Jul 2015

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Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis

Wei Xin, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Xiangming Guo, Qingjiong Zhang

published 10 Jul 2015

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Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma

Donna S. Mackay, Thomas M. Bennett, Alan Shiels

published 10 Jul 2015

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Next-Generation Sequencing Techniques Reveal that Genomic Imprinting Is Absent in Day-Old Gallus gallus domesticus Brains

Qiong Wang, Kaiyang Li, Daixi Zhang, Junying Li, Guiyun Xu, Jiangxia Zheng, Ning Yang, Lujiang Qu

published 10 Jul 2015

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Analytical Validation of AmpliChip p53 Research Test for Archival Human Ovarian FFPE Sections

Matthew J. Marton, Andrew R. McNamara, D. Michele Nikoloff, Aki Nakao, Jonathan Cheng

published 30 Jun 2015

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Deep Sequencing Analysis of HBV Genotype Shift and Correlation with Antiviral Efficiency during Adefovir Dipivoxil Therapy

Yuwei Wang, Xuefeng Shan, Zhi Liang, Youlan Shan, Wenxiang Huang, Dazhi Zhang, Aizhong Zen, Xin Zhou, Yao Zhao, Xuyang Gong, Ge Xu, Xiuyu Zhang, Juan Chen, Ailong Huang

published 25 Jun 2015

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Identification of a Novel p.Q1772X ANK1 Mutation in a Korean Family with Hereditary Spherocytosis

Joo Hyung Han, Seung Kim, Hoon Jang, So Won Kim, Min Goo Lee, Hong Koh, Ji Hyun Lee

published 24 Jun 2015

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Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

Sara L. Ma, Virginia Vega-Warner, Christopher Gillies, Matthew G. Sampson, Vijay Kher, Sidharth K. Sethi, Edgar A. Otto

published 24 Jun 2015

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Validation of an Ion Torrent Sequencing Platform for the Detection of Gene Mutations in Biopsy Specimens from Patients with Non-Small-Cell Lung Cancer

Shiro Fujita, Katsuhiro Masago, Jumpei Takeshita, Chiyuki Okuda, Kyoko Otsuka, Akito Hata, Reiko Kaji, Nobuyuki Katakami, Yukio Hirata

published 15 Jun 2015

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Combined Targeted DNA Sequencing in Non-Small Cell Lung Cancer (NSCLC) Using UNCseq and NGScopy, and RNA Sequencing Using UNCqeR for the Detection of Genetic Aberrations in NSCLC

Xiaobei Zhao, Anyou Wang, Vonn Walter, Nirali M. Patel, David A. Eberhard, Michele C. Hayward, Ashley H. Salazar, Heejoon Jo, Matthew G. Soloway, Matthew D. Wilkerson, Joel S. Parker, Xiaoying Yin, Guosheng Zhang, Marni B. Siegel, Gary B. Rosson, H. Shelton Earp III, Norman E. Sharpless, Margaret L. Gulley, Karen E. Weck, D. Neil Hayes, Stergios J. Moschos

published 15 Jun 2015

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A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

Elisa Contini, Irene Paganini, Roberta Sestini, Luisa Candita, Gabriele Lorenzo Capone, Lorenzo Barbetti, Serena Falconi, Sabrina Frusconi, Irene Giotti, Costanza Giuliani, Francesca Torricelli, Matteo Benelli, Laura Papi

published 12 Jun 2015

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