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Copy number variation

Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus

Chantal E. Hargreaves, Chisako Iriyama, Matthew J. J. Rose-Zerilli, Sietse Q. Nagelkerke, Khiyam Hussain, Rosalind Ganderton, Charlotte Lee, Lee R. Machado, Edward J. Hollox, Helen Parker, Kate V. Latham, Taco W. Kuijpers, Kathleen N. Potter, Sarah E. Coupland, Andrew Davies, Michael Stackpole, Melanie Oates, Andrew R. Pettitt, Martin J. Glennie, Mark S. Cragg, Jonathan C. Strefford

published 06 Nov 2015

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High Throughput Sequencing Analysis of the Immunoglobulin Heavy Chain Gene from Flow-Sorted B Cell Sub-Populations Define the Dynamics of Follicular Lymphoma Clonal Evolution

Emanuela Carlotti, David Wrench, Guglielmo Rosignoli, Jacek Marzec, Ajanthah Sangaralingam, Lena Hazanov, Miri Michaeli, Simon Hallam, Tracy Chaplin, Sameena Iqbal, Maria Calaminici, Bryan Young, Ramit Mehr, Peter Campbell, Jude Fitzgibbon, John G. Gribben

published 01 Sep 2015

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Microarray Analysis of Copy Number Variants on the Human Y Chromosome Reveals Novel and Frequent Duplications Overrepresented in Specific Haplogroups

Martin M. Johansson, Anneleen Van Geystelen, Maarten H. D. Larmuseau, Srdjan Djurovic, Ole A. Andreassen, Ingrid Agartz, Elena Jazin

published 31 Aug 2015

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Genomic Copy Number Variations in the Genomes of Leukocytes Predict Prostate Cancer Clinical Outcomes

Yan P. Yu, Silvia Liu, Zhiguang Huo, Amantha Martin, Joel B. Nelson, George C. Tseng, Jian-Hua Luo

published 21 Aug 2015

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CNV-CH: A Convex Hull Based Segmentation Approach to Detect Copy Number Variations (CNV) Using Next-Generation Sequencing Data

Rituparna Sinha, Sandip Samaddar, Rajat K. De

published 20 Aug 2015

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Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment

Kerry A. Pettigrew, Emily Reeves, Ruth Leavett, Marianna E. Hayiou-Thomas, Anahita Sharma, Nuala H. Simpson, Angela Martinelli, Paul Thompson, Charles Hulme, Margaret J. Snowling, Dianne F. Newbury, Silvia Paracchini

published 11 Aug 2015

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Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants

Maria Delio, Kunjan Patel, Alex Maslov, Robert W. Marion, Thomas V. McDonald, Evan M. Cadoff, Aaron Golden, John M. Greally, Jan Vijg, Bernice Morrow, Cristina Montagna

published 27 Jul 2015

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Family-Based Benchmarking of Copy Number Variation Detection Software

Marcel Elie Nutsua, Annegret Fischer, Almut Nebel, Sylvia Hofmann, Stefan Schreiber, Michael Krawczak, Michael Nothnagel

published 21 Jul 2015

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Genome-Wide Copy Number Variations Using SNP Genotyping in a Mixed Breed Swine Population

Ralph T. Wiedmann, Dan J. Nonneman, Gary A. Rohrer

published 14 Jul 2015

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Genome Wide Distributions and Functional Characterization of Copy Number Variations between Chinese and Western Pigs

Hongyang Wang, Chao Wang, Kui Yang, Jing Liu, Yu Zhang, Yanan Wang, Xuewen Xu, Jennifer J. Michal, Zhihua Jiang, Bang Liu

published 08 Jul 2015

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The Porcine TSPY Gene Is Tricopy but Not a Copy Number Variant

Anh T. Quach, Olutobi Oluwole, William Allan King, Tamas Revay

published 02 Jul 2015

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Combined Targeted DNA Sequencing in Non-Small Cell Lung Cancer (NSCLC) Using UNCseq and NGScopy, and RNA Sequencing Using UNCqeR for the Detection of Genetic Aberrations in NSCLC

Xiaobei Zhao, Anyou Wang, Vonn Walter, Nirali M. Patel, David A. Eberhard, Michele C. Hayward, Ashley H. Salazar, Heejoon Jo, Matthew G. Soloway, Matthew D. Wilkerson, Joel S. Parker, Xiaoying Yin, Guosheng Zhang, Marni B. Siegel, Gary B. Rosson, H. Shelton Earp III, Norman E. Sharpless, Margaret L. Gulley, Karen E. Weck, D. Neil Hayes, Stergios J. Moschos

published 15 Jun 2015

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Comprehensive Survey of Genetic Diversity in Chloroplast Genomes and 45S nrDNAs within Panax ginseng Species

Kyunghee Kim, Sang-Choon Lee, Junki Lee, Hyun Oh Lee, Ho Jun Joh, Nam-Hoon Kim, Hyun-Seung Park, Tae-Jin Yang

published 10 Jun 2015

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