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Nature, ISSN 0028-0836, 09/2012, Volume 489, Issue 7414, pp. 91 - 100
Journal Article
Journal Article
Molecular Systems Biology, ISSN 1744-4292, 2011, Volume 7, Issue 1, pp. 522 - n/a
Journal Article
by Sudmant, Peter H and Rausch, Tobias and Gardner, Eugene J and Handsaker, Robert E and Abyzov, Alexej and Huddleston, John and Zhang, Yan and Ye, Kai and Jun, Goo and Fritz, Markus His-Yang and Konkel, Miriam K and Malhotra, Ankit and Stütz, Adrian M and Shi, Xinghua and Casale, Francesco Paolo and Chen, Jieming and Hormozdiari, Fereydoun and Dayama, Gargi and Chen, Ken and Malig, Maika and Chaisson, Mark J.P and Walter, Klaudia and Meiers, Sascha and Kashin, Seva and Garrison, Erik and Auton, Adam and Lam, Hugo Y.K and Mu, Xinmeng Jasmine and Alkan, Can and Antaki, Danny and Bae, Taejeong and Cerveira, Eliza and Chines, Peter and Chong, Zechen and Clarke, Laura and Dal, Elif and Ding, Li and Emery, Sarah and Fan, Xian and Gujral, Madhusudan and Kahveci, Fatma and Kidd, Jeffrey M and Kong, Yu and Lameijer, Eric-Wubbo and McCarthy, Shane and Flicek, Paul and Gibbs, Richard A and Marth, Gabor and Mason, Christopher E and Menelaou, Androniki and Muzny, Donna M and Nelson, Bradley J and Noor, Amina and Parrish, Nicholas F and Pendleton, Matthew and Quitadamo, Andrew and Raeder, Benjamin and Schadt, Eric E and Romanovitch, Mallory and Schlattl, Andreas and Sebra, Robert and Shabalin, Andrey A and Untergasser, Andreas and Walker, Jerilyn A and Wang, Min and Yu, Fuli and Zhang, Chengsheng and Zhang, Jing and Zheng-Bradley, Xiangqun and Zhou, Wanding and Zichner, Thomas and Sebat, Jonathan and Batzer, Mark A and McCarroll, Steven A and Mills, Ryan E and Gerstein, Mark B and Bashir, Ali and Stegle, Oliver and Devine, Scott E and Lee, Charles and Eichler, Evan E and Korbel, Jan O and Genomes Project Consortium and 1000 Genomes Project Consortium and The 1000 Genomes Project Consortium
Nature, ISSN 0028-0836, 09/2015, Volume 526, Issue 7571, pp. 75 - 81
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 04/2019, Volume 47, Issue 6, pp. 2766 - 2777
Abstract Structural variations (SVs) in the human genome originate from different mechanisms related to DNA repair, replication errors, and retrotransposition.... 
REPAIR | BIOCHEMISTRY & MOLECULAR BIOLOGY | SEQUENCE | ALU ELEMENTS | REGULATORS | HOMOLOGOUS RECOMBINATION | SOMATIC MOSAICISM | ASSOCIATION | TRANSPOSITION | REVEALS | INSIGHTS | Computational Biology
Journal Article
BMC Genomics, ISSN 1471-2164, 04/2017, Volume 18, Issue 1, pp. 321 - 321
Background: High-resolution microarray technology is routinely used in basic research and clinical practice to efficiently detect copy number variants (CNVs)... 
Array Comparative Genome Hybridization (aCGH) | Copy Number Variation (CNV) | SNP array | SNP | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CHROMOSOMAL MICROARRAY ANALYSIS | GENES | GENETICS & HEREDITY | PLURIPOTENCY | STRUCTURAL VARIATION | Cytogenetics | Oligonucleotide Array Sequence Analysis - methods | Genomics | Humans | Genome, Human - genetics | DNA Copy Number Variations | Usage | Copy number variations | Body, Human | Array processors | Genetic aspects | Comparative analysis | Health aspects | Cell culture | Panels | Size distribution | High resolution | Copy number | Tissue culture | Statistical methods | Hybridization | Assaying | Epidemiology | Consortia | Design | Reproduction (copying) | Diagnosis | Chromosomes | Bioinformatics | Probes | Automotive components | Deoxyribonucleic acid--DNA | Platforms | Benign | Nucleic acids | Gene expression | Studies | Polymerase chain reaction | Prenatal diagnosis | DNA microarrays | Stem cells | Computer applications | Software | Aberration | Arrays | Chromosome aberrations | Cell proliferation | Biotechnology | Laboratories | Exons | Genes | Data storage | Genomes | Confidence intervals | Clonal deletion | Deletion | Hum | Statistical analysis | Data processing | Computer programs | Bins | Algorithms | Alu elements | Cost analysis | Inhibitory postsynaptic potentials | Index Medicus
Journal Article
Bioinformatics, ISSN 1367-4803, 03/2011, Volume 27, Issue 5, pp. 595 - 603
Motivation: Defining the precise location of structural variations (SVs) at single-nucleotide breakpoint resolution is an important problem, as it is a... 
SEQUENCES | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | ALGORITHM | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | SUBSEQUENCES | Genomic Structural Variation | Sequence Alignment - methods | Algorithms | Humans | Contig Mapping | Software | Genome, Human | Index Medicus | Original Papers
Journal Article
by Mills, Ryan E and Walter, Klaudia and Stewart, Chip and Handsaker, Robert E and Chen, Ken and Alkan, Can and Abyzov, Alexej and Yoon, Seungtai Chris and Ye, Kai and Cheetham, R. Keira and Chinwalla, Asif and Conrad, Donald F and Fu, Yutao and Grubert, Fabian and Hajirasouliha, Iman and Hormozdiari, Fereydoun and Iakoucheva, Lilia M and Iqbal, Zamin and Kang, Shuli and Kidd, Jeffrey M and Konkel, Miriam K and Korn, Joshua and Khurana, Ekta and Kural, Deniz and Lam, Hugo Y. K and Leng, Jing and Li, Ruiqiang and Li, Yingrui and Lin, Chang-Yun and Luo, Ruibang and Mu, Xinmeng Jasmine and Nemesh, James and Peckham, Heather E and Rausch, Tobias and Scally, Aylwyn and Shi, Xinghua and Stromberg, Michael P and Sütz, Adrian M and Urban, Alexander Eckehart and Walker, Jerilyn A and Wu, Jiantao and Zhang, Yujun and Zhang, Zhengdong D and Batzer, Mark A and Ding, Li and Marth, Gabor T and McVean, Gil and Sebat, Jonathan and Snyder, Michael and Wang, Jun and Ye, Kenny and Eichler, Evan E and Gerstein, Mark B and Hurles, Matthew E and Lee, Charles and McCarroll, Steven A and Korbel, Jan O and Collins, Francis S and Altshuler, D.L and Durbin, R.M and Abecasis, G.R and Bentley, D.R and Chakravarti, A and Clark, A.G and De La Vega, F.M and Donnelly, P and Egholm, M and Flicek, P and Gabriel, S.B and Gibbs, R.A and Knoppers, B.M and Lander, E.S and Lehrach, H and Mardis, E.R and McVean, G.A and Nickerson, D.A and Peltonen, L and Schafer, A.J and Sherry, S.T and Wilson, R.K and Deiros, D and Metzker, M and Muzny, D and Reid, J and Wheeler, D and Li, J and Jian, M and Li, G and Liang, H and Tian, G and Wang, B and Wang, W and Yang, H and Zhang, X and Zheng, H and Ambrogio, L and Bloom, T and Cibulskis, K and Fennell, T.J and Jaffe, D.B and ... and 1000 Genomes Project
Nature, ISSN 0028-0836, 02/2011, Volume 470, Issue 7332, pp. 59 - 65
Journal Article