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Dideoxy DNA sequencing

Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing

Chrysanthia A. Leontiou, Michael D. Hadjidaniel, Petros Mina, Pavlos Antoniou, Marios Ioannides, Philippos C. Patsalis

published 06 Aug 2015

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A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer

Liu Yang, Guosheng Wang, Xinyi Zhao, Song Ye, Peng Shen, Weilin Wang, Shusen Zheng

published 04 Aug 2015

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Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma

Joakim Crona, Viktor Ljungström, Staffan Welin, Martin K. Walz, Per Hellman, Peyman Björklund

published 31 Jul 2015

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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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