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Copy number variation

ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation

Tom Sante, Sarah Vergult, Pieter-Jan Volders, Wigard P. Kloosterman, Geert Trooskens, Katleen De Preter, Annelies Dheedene, Frank Speleman, Tim De Meyer, Björn Menten

published 12 Dec 2014

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Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology

Oscar Campuzano, Georgia Sarquella-Brugada, Irene Mademont-Soler, Catarina Allegue, Sergi Cesar, Carles Ferrer-Costa, Monica Coll, Jesus Mates, Anna Iglesias, Josep Brugada, Ramon Brugada

published 10 Dec 2014

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High-Throughput Sequencing and Copy Number Variation Detection Using Formalin Fixed Embedded Tissue in Metastatic Gastric Cancer

Seokhwi Kim, Jeeyun Lee, Min Eui Hong, In-Gu Do, So Young Kang, Sang Yun Ha, Seung Tae Kim, Se Hoon Park, Won Ki Kang, Min-Gew Choi, Jun Ho Lee, Tae Sung Sohn, Jae Moon Bae, Sung Kim, Duk-Hwan Kim, Kyoung-Mee Kim

published 05 Nov 2014

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Targeted Sequencing of Large Genomic Regions with CATCH-Seq

Kenneth Day, Jun Song, Devin Absher

published 30 Oct 2014

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An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder

Carolina Cappi, Ana Gabriela Hounie, Daniel B. Mariani, Juliana Belo Diniz, Aderbal R. T. Silva, Viviane N. S. Reis, Ariane F. Busso, Amanda Gonçalves Silva, Felipe Fidalgo, Silvia Regina Rogatto, Euripedes C. Miguel, Ana C. Krepischi, Helena Brentani

published 10 Oct 2014

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Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy

Danielle P. Moreira, Karina Griesi-Oliveira, Ana L. Bossolani-Martins, Naila C. V. Lourenço, Vanessa N. O. Takahashi, Kátia M. da Rocha, Eloisa S. Moreira, Estevão Vadasz, Joanna Goes Castro Meira, Debora Bertola, Eoghan O’ Halloran, Tiago R. Magalhães, Agnes C. Fett-Conte, Maria Rita Passos-Bueno

published 25 Sep 2014

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The Association between DNA Copy Number Aberrations at Chromosome 5q22 and Gastric Cancer

Pei-Chien Tsai, Szu-Wei Huang, Hsiang-Lin Tsai, Cheng-Jen Ma, Ming-Feng Hou, I-Ping Yang, Yung-Song Wang, Suh-Hang Hank Juo, Jaw-Yuan Wang

published 11 Sep 2014

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Copy Number Variation of GSTT1 and GSTM1 and the Risk of Prostate Cancer in a Caribbean Population of African Descent

Elise Emeville, Cédric Broquère, Laurent Brureau, Séverine Ferdinand, Pascal Blanchet, Luc Multigner, Marc Romana

published 08 Sep 2014

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Pharmacogenomic Approach to Identify Drug Sensitivity in Small-Cell Lung Cancer

Gary Wildey, Yanwen Chen, Ian Lent, Lindsay Stetson, John Pink, Jill S. Barnholtz-Sloan, Afshin Dowlati

published 08 Sep 2014

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Analysis of Genome-Wide Copy Number Variations in Chinese Indigenous and Western Pig Breeds by 60 K SNP Genotyping Arrays

Yanan Wang, Zhonglin Tang, Yaqi Sun, Hongyang Wang, Chao Wang, Shaobo Yu, Jing Liu, Yu Zhang, Bin Fan, Kui Li, Bang Liu

published 08 Sep 2014

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A Meta-Analysis of Multiple Matched Copy Number and Transcriptomics Data Sets for Inferring Gene Regulatory Relationships

Richard Newton, Lorenz Wernisch

published 22 Aug 2014

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Copy Number Variation Analysis on a Non-Hodgkin Lymphoma Case-Control Study Identifies an 11q25 Duplication Associated with Diffuse Large B-Cell Lymphoma

Lucia Conde, Jacques Riby, Jianqing Zhang, Paige M. Bracci, Christine F. Skibola

published 18 Aug 2014

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Copy Number Variation in Thai Population

Bhoom Suktitipat, Chaiwat Naktang, Wuttichai Mhuantong, Thitima Tularak, Paramita Artiwet, Ekawat Pasomsap, Wallaya Jongjaroenprasert, Suthat Fuchareon, Surakameth Mahasirimongkol, Wasan Chantratita, Boonsit Yimwadsana, Varodom Charoensawan, Natini Jinawath

published 13 Aug 2014

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