Results 11 to 20 of about 4,271,392 (311)

A Worldwide Map of Human Structural Variants [PDF]

Trends in Genetics, 2020
Genomic variation extends from single nucleotide variants to large chromosomal rearrangements, but the extent of structural variation in Homo sapiens is still unclear. Almarri et al. provide a worldwide catalogue of structural variants present in human populations.
Montinaro F., Capelli C.
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Genetic risk variants in intestinal inflammatory disorders [PDF]

, 2010
PhDThis thesis includes work on the genetics of intestinal inflammatory disorders, concentrating on coeliac disease and Crohn’s disease. It explores how common genetic variants influence risk of complex phenotypes including immunological intolerance to
Dubois, Patrick Charles Alexander
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On the Threshold of Editorship. Or From Collection to Oeuvre [PDF]

, 2021
The sole collection of verses by Jonas Mačiulis (1862–1932, pen name Maironis), the father of modern Lithuanian poetry, went through five editions in the author’s lifetime.
Subačius, Paulius Vaidotas,, Subačius, Paulius V.   +1 more
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Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data

Molecular Genetics & Genomic Medicine, 2021
Background Targeted sequencing approaches such as gene panel or exome sequencing have become standard of care for the diagnosis of rare and common genetic disease.
German Demidov, Joohyun Park, Sorin Armeanu‐Ebinger, Cristiana Roggia, Ulrike Faust, Isabell Cordts, Maria Blandfort, Tobias B. Haack, Christopher Schroeder, Stephan Ossowski   +9 more
doaj   +1 more source

VarSite: Disease variants and protein structure [PDF]

Protein Science, 2019
AbstractVarSite is a web server mapping known disease‐associated variants from UniProt and ClinVar, together with natural variants from gnomAD, onto protein 3D structures in the Protein Data Bank. The analyses are primarily image‐based and provide both an overview for each human protein, as well as a report for any specific variant of interest.
Roman A. Laskowski, James D. Stephenson, Ian Sillitoe, Christine A. Orengo, Janet M. Thornton   +4 more
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Structural variant identification and characterization

Chromosome Research, 2020
Structural variant (SV) differences between human genomes can cause germline and mosaic disease as well as inter-individual variation. De-regulation of accurate DNA repair and genomic surveillance mechanisms results in a large number of SVs in cancer. Analysis of the DNA sequences at SV breakpoints can help identify pathways of mutagenesis and regions ...
Parithi Balachandran, Christine R. Beck
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Structural Variants of RM734 in the Design of Splay Nematic Materials [PDF]

, 2021
Structural Variants of RM734 in the Design of Splay Nematic MaterialsThe recent discovery of the splay nematic phase, a new nematic polymorph that has been found to be both polar and ferroelectric, is the lead paragraph in an entirely new chapter in the ...
John W., Goodby, Richard, Mandle, Stephen, Cowling   +2 more
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The effects of common structural variants on 3D chromatin structure [PDF]

BMC Genomics, 2020
Abstract Background Three-dimensional spatial organization of chromosomes is defined by highly self-interacting regions 0.1–1 Mb in size termed Topological Associating Domains (TADs). Genetic factors that explain dynamic variation in TAD structure are not understood.
Shanta, O., Noor, A., Sebat, J., Chaisson, M., Sanders, A., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E., Rodriguez, O., Guo, L., Collins, R., Fan, X., Wen, J., Handsaker, R., Fairley, S., Kronenberg, Z., Kong, X., Hormozdiari, F., Lee, D., Wenger, A., Hastie, A., Antaki, D., Anantharaman, T., Audano, P., Brand, H., Cantsilieris, S., Cao, H., Cerveira, E., Chen, C., Chen, X., Chin, C., Chong, Z., Chuang, N., Lambert, C., Church, D., Clarke, L., Farrell, A., Flores, J., Galeey, T., Gujral, M., Guryev, V., Heaton, W., Korlach, J., Kumar, S., Kwon, J., Lam, E., Lee, J., Lee, J., Lee, W., Lee, S., Li, S., Marks, P., Viaud-Martinez, K., Meiers, S., Munson, K., Navarro, F., Nelson, B., Nodzak, C., Kyriazopoulou-Panagiotopoulou, S., Pang, A., Rosanio, G., Ryan, M., Stuetz, A., Spierings, D., Ward, A., Welch, A., Xiao, M., Xu, W., Zhang, C., Zhu, Q., Zheng-Bradley, X., Lowy, E., Yakneen, S., McCarroll, S., Jun, G., Ding, L., Koh, C., Flicek, P., Chen, K., Gerstein, M., Kwok, P., Lansdorp, P., Marth, G., Shi, X., Bashir, A., Ye, K., Devine, S., Talkowski, M., Mills, R., Marschall, T., Korbel, J., Eichler, E., Lee, C.   +94 more
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Unraveling Gene Fusions for Drug Repositioning in High-Risk Neuroblastoma

Frontiers in Pharmacology, 2021
High-risk neuroblastoma (NB) remains a significant therapeutic challenge facing current pediatric oncology patients. Structural variants such as gene fusions have shown an initial promise in enhancing mechanistic understanding of NB and improving ...
Zhichao Liu, Xi Chen, Ruth Roberts, Ruth Roberts, Ruili Huang, Mike Mikailov, Weida Tong   +6 more
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Three new Alpha1-Antitrypsin deficiency variants help to define a C-Terminal region regulating conformational change and polymerization [PDF]

, 2012
Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema.
Fra Anna M., Fra, Anna M, Anna M. Fra (157302), Scabini, Roberta, Federica Benini, Ferrarotti, Ilaria, L. Corda, Corda, Luciano, Scabini R, E. Miranda, LUISETTI, MAURIZIO, Miranda Elena, Benini, Federica, Corda, L., Benini, F., Medicina D, Luciano Corda, Maurizio Luisetti (142908), Luisa Schiaffonati, I. Ferrarotti, Anna M. Fra, Ilaria Ferrarotti (142893), Luisetti M, Gooptu Bibek, Miranda, E., SCHIAFFONATI, Luisa, Gooptu, Bibekbrata, Anna M Fra, Medicina, Daniela, Elena Miranda, Schiaffonati Luisa, Ferrarotti, I., Medicina, D., R. Ronzoni, Luisetti Maurizio, Daniela Medicina, R. Scabini, L. Schiaffonati, Roberta Scabini (157306), Ferrarotti Ilaria, Ronzoni, R., B. Gooptu, Ferrarotti I, Bibek Gooptu (157303), Luciano Corda (157317), F. Benini, Scabini Roberta, Gasset, M., A. M. Fra, MIRANDA BANOS, MARIA ELENA, Fra, A.M., Ilaria Ferrarotti, Medicina Daniela, FRA, Annamaria, RONZONI, Riccardo, Gooptu B, Daniela Medicina (157321), Ronzoni Riccardo, Benini Federica, Miranda, Elena, D. Medicina, Corda Luciano, Maurizio Luisetti, Benini F, Scabini, R., Corda L, Roberta Scabini, Riccardo Ronzoni (157309), Luisa Schiaffonati (157328), Federica Benini (157312), Riccardo Ronzoni, Gooptu, Bibek, Luisetti, M., Schiaffonati, L., Elena Miranda (21508), Bibek Gooptu, Miranda E   +76 more
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