Detecting Mutations and Variants

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Interpreting de novo Variation in Human Disease Using denovolyzeR
James S. Ware, Kaitlin E. Samocha, Jason Homsy, Mark J. Daly
Published online: October 2015
Management of Incidental Findings in Clinical Genomic Sequencing
Joel B. Krier, Robert C. Green
Published online: October 2015
High‐Sensitivity Detection of PNH Red Blood Cells, Red Cell Precursors, and White Blood Cells
D. Robert Sutherland, Andrea Illingworth, Michael Keeney, Stephen J. Richards
Published online: April 2015
Use of Affymetrix Arrays in the Diagnosis of Gene Copy‐Number Variation
Farah R. Zahir, Marco A. Marra
Published online: April 2015
Using REDItools to Detect RNA Editing Events in NGS Datasets
Ernesto Picardi, Anna Maria D'Erchia, Antonio Montalvo, Graziano Pesole
Published online: March 2015
Molecular Diagnosis of Duchenne Muscular Dystrophy
Babi Ramesh Reddy Nallamilli, Arunkanth Ankala, Madhuri Hegde
Published online: October 2014
Next‐Gen Sequencing‐Based Mapping and Identification of Ethyl Methanesulfonate‐Induced Mutations in Arabidopsis thaliana
Xue‐Cheng Zhang, Yves Millet, Frederick M. Ausubel, Mark Borowsky
Published online: October 2014
Digital Droplet PCR: CNV Analysis and Other Applications
Erica Mazaika, Jason Homsy
Published online: July 2014
Using VAAST to Identify Disease‐Associated Variants in Next‐Generation Sequencing Data
Brett Kennedy, Zev Kronenberg, Hao Hu, Barry Moore, Steven Flygare, Martin G. Reese, Lynn B. Jorde, Mark Yandell, Chad Huff
Published online: April 2014
Using XHMM Software to Detect Copy Number Variation in Whole‐Exome Sequencing Data
Menachem Fromer, Shaun M. Purcell
Published online: April 2014
Using SomaticSniper to Detect Somatic Single Nucleotide Variants
David E. Larson, Travis E. Abbott, Richard K. Wilson
Published online: March 2014
BreakDancer: Identification of Genomic Structural Variation from Paired‐End Read Mapping
Xian Fan, Travis E. Abbott, David Larson, Ken Chen
Published online: March 2014
Quantitative Analysis of Copy Number Variants Based on Real‐Time LightCycler PCR
Lijiang Ma, Wendy K. Chung
Published online: January 2014
Molecular Analysis of Fragile X Syndrome
Monica J. Basehore, Michael J. Friez
Published online: January 2014
Internet Resources in Medical Genetics
Darrel J. Waggoner
Published online: January 2014
Improved Protocols for Illumina Sequencing
Iraad F. Bronner, Michael A. Quail, Daniel J. Turner, Harold Swerdlow
Published online: January 2014
mtDNA Variation and Analysis Using Mitomap and Mitomaster
Marie T. Lott, Jeremy N. Leipzig, Olga Derbeneva, H. Michael Xie, Dimitra Chalkia, Mahdi Sarmady, Vincent Procaccio, Douglas C. Wallace
Published online: December 2013
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