Detecting Mutations and Variants

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Alphabetical     Date
Disease and Phenotype Data at Ensembl
Giulietta M. Spudich, Xosé M. Fernández‐Suárez
Published online: February 2011
Analysis of Mitochondrial DNA Point Mutation Heteroplasmy by ARMS Quantitative PCR
Jing Wang, Victor Venegas, Fangyuan Li, Lee‐Jun Wong
Published online: January 2011
Real‐Time Quantitative PCR Analysis of Mitochondrial DNA Content
Victor Venegas, Jing Wang, David Dimmock, Lee‐Jun Wong
Published online: January 2011
Measurement of Oxidatively‐Induced Clustered DNA Lesions Using a Novel Adaptation of Single Cell Gel Electrophoresis (Comet Assay)
Alexandros G. Georgakilas, Stewart M. Holt, Jessica M. Hair, Charles W. Loftin
Published online: December 2010
Single Molecule Sequencing with a HeliScope Genetic Analysis System
John F. Thompson, Kathleen E. Steinmann
Published online: October 2010
Targeted Enrichment of Specific Regions in the Human Genome by Array Hybridization
Catherine Igartua, Emily H. Turner, Sarah B. Ng, Emily Hodges, Gregory J. Hannon, Arindam Bhattacharjee, Mark J. Rieder, Deborah A. Nickerson, Jay Shendure
Published online: July 2010
Targeted Exon Sequencing by In‐Solution Hybrid Selection
Brendan Blumenstiel, Kristian Cibulskis, Sheila Fisher, Matthew DeFelice, Andrew Barry, Tim Fennell, Justin Abreu, Brian Minie, Maura Costello, Geneva Young, Jared Maquire, Andrew Kernytsky, Alexandre Melnikov, Peter Rogov, Andreas Gnirke, Stacey Gabriel
Published online: July 2010
Application of Nexus Copy Number Software for CNV Detection and Analysis
Katayoon Darvishi
Published online: April 2010
Comprehensive High‐Throughput Arrays for Relative Methylation (CHARM)
Christine Ladd‐Acosta, Martin J. Aryee, Jared M. Ordway, Andrew P. Feinberg
Published online: April 2010
Overview of Linkage Analysis in Complex Traits
William S. Bush, Jonathan Haines
Published online: January 2010
Single‐Cell DNA and FISH Analysis for Application to Preimplantation Genetic Diagnosis
Samuel S. Chong, Robert E. Gore‐Langton, Mark R. Hughes, Stanislawa Weremowicz
Published online: January 2010
Identifying Mutations for MYH‐Associated Polyposis
Thomas W. Prior, Scott J. Bridgeman
Published online: January 2010
Evaluation of the Mitochondrial Respiratory Chain and Oxidative Phosphorylation System Using Blue Native Gel Electrophoresis
Francisca Díaz, Antoni Barrientos, Flavia Fontanesi
Published online: October 2009
Analysis of Oxidative Damage by Gene‐Specific Quantitative PCR
Olga A. Kovalenko, Janine H. Santos
Published online: July 2009
An Overview of Custom Array Sequencing
Prachi Kothiyal, Stephanie Cox, Jonathan Ebert, Bruce J. Aronow, John H. Greinwald, Heidi L. Rehm
Published online: April 2009
Robust Dosage PCR (RD‐PCR) for Highly Accurate Dosage Analysis
Vu Q. Nguyen, Qiang Liu, Steve S. Sommer
Published online: January 2009
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