Results 31 to 40 of about 800,936 (315)

Structural Variation Testing and Recommendations on Reporting [PDF]

, 2023
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus and a comprehensive summary of structural variation.
Agúndez, José A. G., Phillips, Michael S., Dunnenberger, Henry M., Kennedy, Martin A., Michelle Whirl‐Carrillo, Houda Hachad, Bronwyn E. Ramey, Sangkuhl, Katrin, Klein, Teri E., Vanoni, Simone, Simone Vanoni, Hachad, Houda, Ramey, Bronwyn E., José A. G. Agúndez, Amy J. Turner, Michael S. Phillips, Ann M. Moyer, Ruano, Gualberto, Whirl-Carrillo, Michelle, Henry M. Dunnenberger, Turner, Amy J., Andrea Gaedigk, Gaedigk, Andrea, Reynold C. Ly, Charity Nofziger, Gualberto Ruaño, Martin A. Kennedy, Nofziger, Charity, Moyer, Ann M., Katrin Sangkuhl, Bousman, Chad A., Teri E. Klein, Ly, Reynold C., Chad A. Bousman   +33 more
core   +1 more source

Novel Genetic Rearrangements Termed “Structural Variation Polymorphisms“ Contribute to the Genetic Diversity of Orthohepadnaviruses

Viruses, 2019
The genetic diversity of orthohepadnaviruses is not yet fully understood. This study was conducted to investigate the role of structural variations (SVs) in their diversity. Genetic sequences of orthohepadnaviruses were retrieved from databases.
Kei Fujiwara, Kentaro Matsuura, Kayoko Matsunami, Etsuko Iio, Yoshihito Nagura, Shunsuke Nojiri, Hiromi Kataoka   +6 more
doaj   +1 more source

Genomics of Clinal Local Adaptation in Pinus sylvestris Under Continuous Environmental and Spatial Genetic Setting

G3: Genes, Genomes, Genetics, 2020
Understanding the consequences of local adaptation at the genomic diversity is a central goal in evolutionary genetics of natural populations. In species with large continuous geographical distributions the phenotypic signal of local adaptation is ...
Jaakko S. Tyrmi, Jaana Vuosku, Juan J. Acosta, Zhen Li, Lieven Sterck, Maria T. Cervera, Outi Savolainen, Tanja Pyhäjärvi   +7 more
doaj   +1 more source

Complete Mitochondrial Genomes of Four Pelodiscus sinensis Strains and Comparison with Other Trionychidae Species

Biology, 2023
The Chinese soft-shelled turtle (Pelodiscus sinensis) is an important aquaculture reptile with rich nutritional and medicinal values. In recent decades, the wild resources of P. sinensis have been depleting due to natural and artificial factors.
Jing Chen, Jinbiao Jiao, Xuemei Yuan, Xiaohong Huang, Lei Huang, Lingyun Lin, Wenlin Yin, Jiayun Yao, Haiqi Zhang   +8 more
doaj   +1 more source

Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution [PDF]

, 2010
Chromosomal rearrangements and copy number variants (CNVs) play key roles in genome evolution and genetic disease; however, the molecular mechanisms underlying these types of structural genomic variation are not fully understood.
Skinner, Benjamin M., Bunzey, Sydney K., Ellegren, Hans, Völker, Martin, Backström, Niclas, Langley, Elizabeth J, Griffin, Darren K.   +6 more
core   +1 more source

Adding the microdimension to the study of language change in contact. Three case studies [PDF]

, 2022
Syntactic change in contact is generally explained as a result of cognitive, structural/typological, or sociolinguistic factors. However, the relative weight of these factors in shaping the outputs of contact is yet to be assessed.
Terenghi, Silvia, Andriani, Luigi, van Osch, Brechje, Frasson, Alberto, Sorgini, Luana, D'Alessandro, Roberta   +5 more
core   +1 more source

Large-Scale Structural Variation Detection in Subterranean Clover Subtypes Using Optical Mapping

Frontiers in Plant Science, 2018
We selected two genetically diverse subspecies of the Trifolium model species, subterranean clover cvs. Daliak and Yarloop. The structural variations (SVs) discovered by Bionano optical mapping (BOM) were validated using Illumina short reads.
Yuxuan Yuan, Yuxuan Yuan, Zbyněk Milec, Philipp E. Bayer, Philipp E. Bayer, Jan Vrána, Jaroslav Doležel, David Edwards, David Edwards, William Erskine, William Erskine, Parwinder Kaur, Parwinder Kaur, Parwinder Kaur   +13 more
doaj   +1 more source

Detection of Structural Variations and Fusion Genes in Breast Cancer Samples Using Third-Generation Sequencing

Frontiers in Cell and Developmental Biology, 2022
Background: Structural variations (SVs) are common genetic alterations in the human genome that could cause different phenotypes and diseases, including cancer.
Taobo Hu, Jingjing Li, Jingjing Li, Mengping Long, Jinbo Wu, Zhen Zhang, Fei Xie, Jin Zhao, Houpu Yang, Qianqian Song, Sheng Lian, Jiandong Shi, Xueyu Guo, Daoli Yuan, Dandan Lang, Guoliang Yu, Baosheng Liang, Xiaohua Zhou, Toyotaka Ishibashi, Xiaodan Fan, Weichuan Yu, Depeng Wang, Yang Wang, I-Feng Peng, Shu Wang   +24 more
doaj   +1 more source

Insights Into Comparative Analyses and Phylogenomic Implications of Acer (Sapindaceae) Inferred From Complete Chloroplast Genomes

Frontiers in Genetics, 2022
Acer L. (Sapindaceae) is one of the most diverse and widespread plant genera in the Northern Hemisphere. It comprises 124–156 recognized species, with approximately half being native to Asia. Owing to its numerous morphological features and hybridization,
Tao Yu, Tao Yu, Jian Gao, Pei-Chun Liao, Jun-Qing Li, Wen-Bao Ma   +5 more
doaj   +1 more source

Comparative Analysis for the Performance of Long-Read-Based Structural Variation Detection Pipelines in Tandem Repeat Regions

Frontiers in Pharmacology, 2021
There has been growing recognition of the vital links between structural variations (SVs) and diverse diseases. Research suggests that, with much longer DNA fragments and abundant contextual information, long-read technologies have advantages in SV ...
Mingkun Guo, Shihai Li, Yifan Zhou, Menglong Li, Zhining Wen, Zhining Wen   +5 more
doaj   +1 more source