作者： Karin R. Engelhardt ; Yaobo Xu ; Angela Grainger…

关键词：IL7R ; copy number variation ; compound heterozygous ; SCID ; whole exome sequencing

刊名：Journal of Clinical Immunology

出版年：2017

作者： Claudia Pommerenke ; Robert Geffers ; Boyke Bunk ; Sabin Bhuju ; Sonja Eberth…

关键词：Whole exome sequencing ; DNA insert size ; Read coverage ; Evenness score ; Variant calling

刊名：BMC Genomics

出版年：2016

作者： Christina A Castellani ; Melkaye G Melka ; Andrea E Wishart…

关键词：Microarrays ; Copy number variation ; Genetic relatedness ; CNV calling methods ; Monozygotic twins

刊名：BMC Bioinformatics

出版年：2014

作者： Carles Hernandez-Ferrer ; Ines Quintela Garcia ; Katharina Danielski…

关键词：Affymetrix ; CytoScan ; CytoScan HD ; CytoScan 750k ; CNV ; Inversion ; Mosaicism ; Structural variants

刊名：BMC Bioinformatics

出版年：2015

作者：Jian-Feng Yang (1)
Xiao-Fan Ding (1)
Lei Chen (2)
Wai-Kin Mat (1)
Michelle Zhi Xu (3)
Jin-Fei Chen (3)
Jian-Min Wang (4)
Lin Xu (5)
Wai-Sang Poon (6)
Ava Kwong (7)
Gilberto Ka-Kit Leung (7)
Tze-Ching Tan (8)
Chi-Hung Yu (8)
Yue-Bin Ke (9)
Xin-Yun Xu (9)
Xiao-Yan Ke (10)
Ronald CW Ma (11)
Juliana CN Chan (11)
Wei-Qing Wan (12)
Li-Wei Zhang (12)
Yogesh Kumar (1)
Shui-Ying Tsang (1)
Shao Li (13)
Hong-Yang Wang (14) (2)
Hong Xue (1)

1. Division of Life Science and Applied Genomics Centre ; Hong Kong University of Science and Technology ; Clear Water Bay ; Hong Kong ; China
2. National Center for Liver Cancer Research and Eastern Hepatobiliary Surgery Hospital ; 225 Changhai Road ; Shanghai ; 200438 ; China
3. Department of Oncology ; Nanjing First Hospital ; No. 68 Changle Road ; Nanjing ; 210006 ; China
4. Department of Hematology ; Changhai Hospital ; Second Military Medical University ; 174 Changhai Road ; Shanghai ; 200433 ; China
5. Department of Thoracic Surgery ; Jiangsu Key Laboratory of Molecular and Translational Cancer Research ; Nanjing Medical University Affiliated Cancer Hospital ; Cancer Institute of Jiangsu Province ; Baiziting 42 ; Nanjing ; 210009 ; China
6. Division of Neurosurgery ; Department of Surgery ; Prince of Wales Hospital ; Chinese University of Hong Kong ; 30-32 Ngan Shing Street ; Sha Tin ; Hong Kong ; China
7. Division of Neurosurgery ; Department of Surgery ; Li Ka Shing Faculty of Medicine ; University of Hong Kong ; Queen Mary Hospital ; 102 Pokfulam Road ; Hong Kong ; China
8. Department of Neurosurgery ; Queen Elizabeth Hospital ; 30 Gascoigne Road ; Kowloon ; Hong Kong ; China
9. Shenzhen Center for Disease Control and Prevention ; No 8 Longyuan Road ; Nanshan district ; Shenzhen City ; 518055 ; China
10. Nanjing Brain Hospital and Nanjing Institute of Neuropsychiatry ; Nanjing Medical University ; Nanjing ; 210029 ; China
11. Department of Medicine and Therapeutics ; 9th floor ; Clinical Sciences Building ; The Prince of Wales Hospital ; Shatin ; Hong Kong
12. Department of Neurosurgery ; Beijing Tiantan Hospital ; 6 Tiantan Xili ; Dongcheng District ; Capital Medical University ; Beijing ; 100050 ; China
13. MOE Key Laboratory of Bioinformatics and Bioinformatics Division ; TNLIST ; Department of Automation ; Tsinghua University ; Beijing ; 100084 ; China
14. International Cooperation Laboratory on Signal Transduction ; Eastern Hepatobiliary Surgery Hospital ; 225 Changhai Road ; Shanghai ; 200438 ; China

关键词：AluScan sequencing ; CNV calling ; Cancer classification ; Machine learning

刊名：Journal of Clinical Bioinformatics

出版年：2014

作者：Bente A Talseth-Palmer (1) (2)
Elizabeth G Holliday (2) (3)
Tiffany-Jane Evans (1) (2)
Mark McEvoy (3)
John Attia (3)
Desma M Grice (1) (2) (4)
Amy L Masson (1) (2)
Cliff Meldrum (5)
Allan Spigelman (6) (7)
Rodney J Scott (1) (2) (5)

关键词：HNPCC ; Lynch syndrome ; SNP arrays ; CNVs ; CNV burden

刊名：BMC Medical Genomics

出版年：2013

作者： Xin Zhang ; Renqian Du ; Shilin Li ; Feng Zhang ; Li Jin ; Hongyan Wang

关键词：CNV ; CGH ; Evaluation ; Comparison ; Performance test ; Reproducibility test ; Success rate ; Birdsuite ; dChip ; GTC ; PennCNV

刊名：BMC Bioinformatics

出版年：2014

作者：Nikolas Pontikos (1)
Deborah J Smyth (1)
Helen Schuilenburg (1)
Joanna MM Howson (1) (2)
Neil M Walker (1)
Oliver S Burren (1)
Hui Guo (1)
Suna Onengut-Gumuscu (3)
Wei-Min Chen (3)
Patrick Concannon (4)
Stephen S Rich (3)
Jyothi Jayaraman (5) (6)
Wei Jiang (5) (6)
James A Traherne (5) (6)
John Trowsdale (5) (6)
John A Todd (1)
Chris Wallace (1) (7)

1. JDRF/Wellcome Trust Diabetes and Inflammation Laboratory ; Cambridge Institute for Medical Research ; University of Cambridge ; Wellcome Trust/MRC Building ; CB2 0XY ; Cambridge ; UK
2. Cardiovascular Epidemiology Unit ; Department of Public Health and Primary Care ; University of Cambridge ; Strangeways Research Laboratory ; CB1 8RN ; Cambridge ; UK
3. Center for Public Health Genomics ; University of Virginia ; 22908-0717 ; Charlottesville ; Virginia ; USA
4. University of Florida Genetics Institute ; 32610-3610 ; Gainesville ; Florida ; USA
5. Division of Immunology ; Department of Pathology ; University of Cambridge ; Tennis Court Road ; CB2 1QP ; Cambridge ; UK
6. Cambridge Institute for Medical Research ; University of Cambridge ; Wellcome Trust/MRC Building ; CB2 0XY ; Cambridge ; UK
7. MRC Biostatistics Unit ; Institute of Public Health ; University Forvie Site ; Robinson Way ; CB2 0SR ; Cambridge ; UK

关键词：KIR3DL1 ; KIR3DS1 ; KIR2DS4 ; KIR2DL3 ; KIR2DL5 ; KIR2DS5 ; KIR2DS1 ; HLA ; Bw4 ; CNV ; qPCR ; ImmunoChip ; KIR ; Imputation ; T1D

刊名：BMC Genomics

出版年：2014

作者：Ga?lle Marenne (1) (2)
Francisco X Real (1) (3)
Nathaniel Rothman (4)
Benjamin Rodríguez-Santiago (3) (5)
Luis Pérez-Jurado (3) (5) (6) (7)
Manolis Kogevinas (10) (11) (8) (9)
Montse García-Closas (4)
Debra T Silverman (4)
Stephen J Chanock (4)
Emmanuelle Génin (2)
Núria Malats (1)

关键词：Bladder cancer risk ; Glutathione S ; transferase mu 1 (GSTM1) ; Copy number variation (CNV) ; SNP ; array

刊名：BMC Genomics

出版年：2012

作者：Li Jiang (1)
Jicai Jiang (1)
Jie Yang (1)
Xuan Liu (1)
Jiying Wang (2)
Haifei Wang (1)
Xiangdong Ding (1)
Jianfeng Liu (1)
Qin Zhang (1)

关键词：Copy number variations ; Cattle ; BovineHD beadChip ; Genome variation ; Quantitative real time PCR

刊名：BMC Genomics

出版年：2013