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BMC Bioinformatics, ISSN 1471-2105, 01/2019, Volume 20, Issue 1, pp. 60 - 7
BackgroundHigh-throughput technologies for analyzing chromosome conformation at a genome scale have revealed that chromatin is organized in topologically... 
Enhancers | Epigenomics | Transcriptomics | Topologically associated domains | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | GENOME | Epigenetic inheritance | Technology application | Chromatin | Analysis | Genes | Brain tumors | Genomics | Genomes | Gene expression
Journal Article
by Chaisson, Mark J. P and Sanders, Ashley D and Zhao, Xuefang and Malhotra, Ankit and Porubsky, David and Rausch, Tobias and Gardner, Eugene J and Rodriguez, Oscar L and Guo, Li and Collins, Ryan L and Fan, Xian and Wen, Jia and Handsaker, Robert E and Fairley, Susan and Kronenberg, Zev N and Kong, Xiangmeng and Hormozdiari, Fereydoun and Lee, Dillon and Wenger, Aaron M and Hastie, Alex R and Antaki, Danny and Anantharaman, Thomas and Audano, Peter A and Brand, Harrison and Cantsilieris, Stuart and Cao, Han and Cerveira, Eliza and Chen, Chong and Chen, Xintong and Chin, Chen-Shan and Chong, Zechen and Chuang, Nelson T and Lambert, Christine C and Church, Deanna M and Clarke, Laura and Farrell, Andrew and Flores, Joey and Galeev, Timur and Gorkin, David U and Gujral, Madhusudan and Guryev, Victor and Heaton, William Haynes and Korlach, Jonas and Kumar, Sushant and Kwon, Jee Young and Lam, Ernest T and Lee, Jong Eun and Lee, Joyce and Lee, Wan-Ping and Lee, Sau Peng and Li, Shantao and Marks, Patrick and Viaud-Martinez, Karine and Meiers, Sascha and Munson, Katherine M and Navarro, Fabio C. P and Nelson, Bradley J and Nodzak, Conor and Noor, Amina and Kyriazopoulou-Panagiotopoulou, Sofia and Pang, Andy W. C and Qiu, Yunjiang and Rosanio, Gabriel and Ryan, Mallory and Stütz, Adrian and Spierings, Diana C. J and Ward, Alistair and Welch, AnneMarie E and Xiao, Ming and Xu, Wei and Zhang, Chengsheng and Zhu, Qihui and Zheng-Bradley, Xiangqun and Lowy, Ernesto and Yakneen, Sergei and McCarroll, Steven and Jun, Goo and Ding, Li and Koh, Chong Lek and Ren, Bing and Flicek, Paul and Chen, Ken and Gerstein, Mark B and Kwok, Pui-Yan and Lansdorp, Peter M and Marth, Gabor T and Sebat, Jonathan and Shi, Xinghua and Bashir, Ali and Ye, Kai and Devine, Scott E and Talkowski, Michael E and Mills, Ryan E and Marschall, Tobias and Korbel, Jan O and Eichler, Evan E and Lee, Charles
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 1784 - 16
The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association.... 
MICRODELETION | GENETIC-VARIATION | RECOMBINATION | ACCURATE | SPERM CELLS | MAPS | MULTIDISCIPLINARY SCIENCES | SEGMENTAL DUPLICATIONS | DIVERSITY | RETROTRANSPOSITION | COPY-NUMBER VARIATION | Metal oxides | Energy transfer | Metals
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 03/2019, Volume 10, Issue 1, pp. 1459 - 19
Journal Article
Nature Cell Biology, ISSN 1465-7392, 10/2019, Volume 21, Issue 10, pp. 1248 - 1260
While nuclear lamina abnormalities are hallmarks of human diseases, their interplay with epigenetic regulators and precise epigenetic landscape remain poorly... 
Epigenetic inheritance | Research | Genetic transcription | Acetylation | Histone deacetylase | Phosphorylation | Regulators | Transcription | Architecture | Abnormalities | Genomes | Mimicry | Genomic instability | Heterochromatin | Lysine | Epigenetics | Acetyltransferase | Stochasticity | Methylation | Histone H3
Journal Article
Nature reviews. Genetics, ISSN 1471-0056, 08/2019
Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in Europe... 
Journal Article
NATURE GENETICS, ISSN 1061-4036, 08/2019, Volume 51, Issue 8, pp. 1272 - 1272
Chromatin topology is intricately linked to gene expression, yet its functional requirement remains unclear. Here, we comprehensively assessed the interplay... 
ACTIVATION | CHROMATIN DOMAINS | LANDSCAPE | GENETICS & HEREDITY | COHESIN | CTCF | ENHANCERS | STRUCTURAL VARIATION | PAIRED-END | MAP | PRINCIPLES | Chromatin | Usage | Analysis | Drosophila | Physiological aspects | Influence | Genetic aspects | Nucleotide sequencing | Gene expression | DNA sequencing | Breakpoints | Inversions | Genomes | Topology | Boundaries | Embryos | Gene sequencing | Domains | Insects | Disruption | Chromosomes | Bioinformatics | Deoxyribonucleic acid--DNA
Journal Article
BIOINFORMATICS, ISSN 1367-4803, 07/2019, Volume 35, Issue 14, pp. 2489 - 2491
Harmonizing quality control (QC) of large-scale second and third-generation sequencing datasets is key for enabling downstream computational and biological... 
QUALITY-CONTROL | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Applications Notes
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2019, Volume 27, Issue 4, pp. 631 - 636
Genetic interaction is a crucial issue in the understanding of functional pathways underlying complex diseases. However, detecting such interaction effects is... 
BREAST-CANCER | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Computer simulation | Disease | Gene frequency | Risk assessment | Genomes | Twins | Power | Siblings
Journal Article
Cold Spring Harbor Molecular Case Studies, ISSN 2373-2865, 2019, Volume 5, Issue 1, p. a002428
Whole-genome and whole-exome sequencing of individual patients allow the study of rare and potentially causative genetic variation. In this study, we sequenced... 
inflammation of the large intestine | Inflammatory bowel diseases | Nox1 gene | Immune response | Nucleotide sequence | Epithelial cells | Mucosa | Parents | Oxidase | Genomes | Genetic diversity | NAD(P)H oxidase | Gene sequencing | Inflammatory bowel disease | p22phox Protein | Intestine | Colon | Deoxyribonucleic acid--DNA | Age | NOD2 protein | Research Report
Journal Article
Cancer Cell, ISSN 1535-6108, 12/2018, Volume 34, Issue 6, pp. 996 - 1011.e8
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2018, Volume 115, Issue 48, pp. E11311 - E11320
Journal Article