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Dideoxy DNA sequencing

DISSECT Method Using PNA-LNA Clamp Improves Detection of EGFR T790m Mutation

Minakshi Guha, Elena Castellanos-Rizaldos, G. Mike Makrigiorgos

published 21 Jun 2013

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Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes

Li Huang, Qingyan Zhang, Shiqiang Li, Liping Guan, Xueshan Xiao, Jianguo Zhang, Xiaoyun Jia, Wenmin Sun, Zhihong Zhu, Yang Gao, Ye Yin, Panfeng Wang, Xiangming Guo, Jun Wang, Qingjiong Zhang

published 11 Jun 2013

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A Modified RNA-Seq Approach for Whole Genome Sequencing of RNA Viruses from Faecal and Blood Samples

Elizabeth M. Batty, T. H. Nicholas Wong, Amy Trebes, Karène Argoud, Moustafa Attar, David Buck, Camilla L. C. Ip, Tanya Golubchik, Madeleine Cule, Rory Bowden, Charis Manganis, Paul Klenerman, Eleanor Barnes, A. Sarah Walker, David H. Wyllie, Daniel J. Wilson, Kate E. Dingle, Tim E. A. Peto, Derrick W. Crook, Paolo Piazza

published 10 Jun 2013

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MultiPSQ: A Software Solution for the Analysis of Diagnostic n-Plexed Pyrosequencing Reactions

Piotr Wojtek Dabrowski, Kati Schröder, Andreas Nitsche

published 26 Mar 2013

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Automated Universal BRAF State Detection within the Activation Segment in Skin Metastases by Pyrosequencing-Based Assay U-BRAF^V600

Alexander Skorokhod, Peter Helmbold, Benedikt Brors, Peter Schirmacher, Alexander Enk, Roland Penzel

published 26 Mar 2013

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Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing

Satoshi Narumi, Kumihiro Matsuo, Tomohiro Ishii, Yusuke Tanahashi, Tomonobu Hasegawa

published 25 Mar 2013

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Identifying and Classifying Trait Linked Polymorphisms in Non-Reference Species by Walking Coloured de Bruijn Graphs

Richard M. Leggett, Ricardo H. Ramirez-Gonzalez, Walter Verweij, Cintia G. Kawashima, Zamin Iqbal, Jonathan D. G. Jones, Mario Caccamo, Daniel MacLean

published 25 Mar 2013

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Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients

Atsushi Ishii, Yoshiaki Saito, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Hidee Arai, Sumimasa Yamashita, Sadami Kimura, Hirokazu Oguni, Shinichi Morishita, Shoji Tsuji, Masayuki Sasaki, Shinichi Hirose

published 08 Feb 2013

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An Improved Genotyping by Sequencing (GBS) Approach Offering Increased Versatility and Efficiency of SNP Discovery and Genotyping

Humira Sonah, Maxime Bastien, Elmer Iquira, Aurélie Tardivel, Gaétan Légaré, Brian Boyle, Éric Normandeau, Jérôme Laroche, Stéphane Larose, Martine Jean, François Belzile

published 23 Jan 2013

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Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

C. Alexander Valencia, Arunkanth Ankala, Devin Rhodenizer, Shruti Bhide, Martin Robert Littlejohn, Lisa Mari Keong, Anne Rutkowski, Susan Sparks, Carsten Bonnemann, Madhuri Hegde

published 11 Jan 2013

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Comparison of Testing Methods for the Detection of BRAF V600E Mutations in Malignant Melanoma: Pre-Approval Validation Study of the Companion Diagnostic Test for Vemurafenib

Fernando Lopez-Rios, Barbara Angulo, Belen Gomez, Debbie Mair, Rebeca Martinez, Esther Conde, Felice Shieh, Jeffrey Vaks, Rachel Langland, H. Jeffrey Lawrence, David Gonzalez de Castro

published 10 Jan 2013

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Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Kerstin Knies, Beatrice Schuster, Najim Ameziane, Martin Rooimans, Thomas Bettecken, Johan de Winter, Detlev Schindler

published 20 Dec 2012

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Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Oscar Diaz-Horta, Duygu Duman, Joseph Foster II, Aslı Sırmacı, Michael Gonzalez, Nejat Mahdieh, Nikou Fotouhi, Mortaza Bonyadi, Filiz Başak Cengiz, Ibis Menendez, Rick H. Ulloa, Yvonne J. K. Edwards, Stephan Züchner, Susan Blanton, Mustafa Tekin

published 30 Nov 2012

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