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Dideoxy DNA sequencing

Exome Sequencing Identifies a Novel Gene, WNK1, for Susceptibility to Pelvic Organ Prolapse (POP)

Shuquan Rao, Jinghe Lang, Lan Zhu, Juan Chen

published 04 Mar 2015

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An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

Tobias Eisenberger, Christian Decker, Milan Hiersche, Ruben C. Hamann, Eva Decker, Steffen Neuber, Valeska Frank, Hanno J. Bolz, Henry Fehrenbach, Lars Pape, Burkhard Toenshoff, Christoph Mache, Kay Latta, Carsten Bergmann

published 03 Feb 2015

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Novel Exons and Splice Variants in the Human Antibody Heavy Chain Identified by Single Cell and Single Molecule Sequencing

Christopher Vollmers, Lolita Penland, Jad N. Kanbar, Stephen R. Quake

published 22 Jan 2015

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Detection of SRSF2-P95 Mutation by High-Resolution Melting Curve Analysis and Its Effect on Prognosis in Myelodysplastic Syndrome

Jiang Lin, Jing Yang, Xiang-mei Wen, Lei Yang, Zhao-qun Deng, Zhen Qian, Ji-chun Ma, Hong Guo, Ying-ying Zhang, Wei Qian, Jun Qian

published 26 Dec 2014

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Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing

Shanshan Yu, Liyuan Chen, Lili Ye, Lingna Fei, Wei Tang, Yujiao Tian, Qian Geng, Xin Yi, Jiansheng Xie

published 02 Dec 2014

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The Accuracy, Feasibility and Challenges of Sequencing Short Tandem Repeats Using Next-Generation Sequencing Platforms

Monika Zavodna, Andrew Bagshaw, Rudiger Brauning, Neil J. Gemmell

published 01 Dec 2014

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Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability

Zehra Agha, Zafar Iqbal, Maleeha Azam, Humaira Ayub, Lisenka E. L. M. Vissers, Christian Gilissen, Syeda Hafiza Benish Ali, Moeen Riaz, Joris A. Veltman, Rolph Pfundt, Hans van Bokhoven, Raheel Qamar

published 18 Nov 2014

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Whole-Genome Sequencing of the World’s Oldest People

Hinco J. Gierman, Kristen Fortney, Jared C. Roach, Natalie S. Coles, Hong Li, Gustavo Glusman, Glenn J. Markov, Justin D. Smith, Leroy Hood, L. Stephen Coles, Stuart K. Kim

published 12 Nov 2014

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A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome

Kim Vancampenhout, Ben Caljon, Claudia Spits, Katrien Stouffs, An Jonckheere, Linda De Meirleir, Willy Lissens, Arnaud Vanlander, Joél Smet, Boel De Paepe, Rudy Van Coster, Sara Seneca

published 10 Nov 2014

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Whole-Exome Sequencing to Decipher the Genetic Heterogeneity of Hearing Loss in a Chinese Family with Deaf by Deaf Mating

Jie Qing, Denise Yan, Yuan Zhou, Qiong Liu, Weijing Wu, Zian Xiao, Yuyuan Liu, Jia Liu, Lilin Du, Dinghua Xie, Xue Zhong Liu

published 07 Oct 2014

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Systematic Production of Inactivating and Non-Inactivating Suppressor Mutations at the relA Locus That Compensate the Detrimental Effects of Complete spoT Loss and Affect Glycogen Content in Escherichia coli

Manuel Montero, Mehdi Rahimpour, Alejandro M. Viale, Goizeder Almagro, Gustavo Eydallin, Ángel Sevilla, Manuel Cánovas, Cristina Bernal, Ana Belén Lozano, Francisco José Muñoz, Edurne Baroja-Fernández, Abdellatif Bahaji, Hirotada Mori, Francisco M. Codoñer, Javier Pozueta-Romero

published 04 Sep 2014

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Platform Comparison for Evaluation of ALK Protein Immunohistochemical Expression, Genomic Copy Number and Hotspot Mutation Status in Neuroblastomas

Benedict Yan, Chik Hong Kuick, Malcolm Lim, Kavita Venkataraman, Chandana Tennakoon, Eva Loh, Derrick Lian, May Ying Leong, Manikandan Lakshmanan, Vinay Tergaonkar, Wing-Kin Sung, Shui Yen Soh, Kenneth T. E. Chang

published 04 Sep 2014

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Application of Multi-Objective Optimization to Pooled Experiments of Next Generation Sequencing for Detection of Rare Mutations

Julius Žilinskas, Algirdas Lančinskas, Mario Rosario Guarracino

published 02 Sep 2014

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