Results 1 to 10 of about 2,448,479 (335)

Impact and characterization of serial structural variations across humans and great apes

Nature Communications
Modern sequencing technology enables the systematic detection of complex structural variation (SV) across genomes. However, extensive DNA rearrangements arising through a series of mutations, a phenomenon we refer to as serial SV (sSV), remain ...
Wolfram Höps, Tobias Rausch, Michael Jendrusch, Human Genome Structural Variation Consortium (HGSVC), Jan O. Korbel, Fritz J. Sedlazeck   +5 more
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Towards a 'canonical' agranular cortical microcircuit

Frontiers in Neuroanatomy, 2015
Based on regularities in the intrinsic microcircuitry of cortical areas, variants of a 'canonical' cortical microcircuit have been proposed and widely adopted, particularly in computational neuroscience and neuroinformatics.
Sarah F. Beul, Claus C. Hilgetag, Claus C. Hilgetag   +2 more
doaj   +1 more source

SINE Insertion in the Intron of Pig GHR May Decrease Its Expression by Acting as a Repressor

Animals, 2021
The genetic diversity of the GH/IGF axis genes and their association with the variation of gene expression and phenotypic traits, principally represented by SNPs, have been extensively reported.
Cai Chen, Yao Zheng, Mengli Wang, Eduard Murani, Enrico D’Alessandro, Ali Shoaib Moawad, Xiaoyan Wang, Klaus Wimmers, Chengyi Song   +8 more
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Genome-wide association analyses reveal copy number variant regions associated with reproduction and disease traits in Canadian Holstein cattle

Journal of Dairy Science
: This study aimed to evaluate the impact of copy number variants (CNV) on 13 reproduction and 12 disease traits in Holstein cattle. Intensity signal files containing log R ratio and B allele frequency information from 13,730 Holstein animals genotyped ...
Hinayah Rojas de Oliveira, Tatiane C.S. Chud, Gerson A. Oliveira, Jr., Isis C. Hermisdorff, Saranya G. Narayana, Christina M. Rochus, Adrien M. Butty, Francesca Malchiodi, Paul Stothard, Filippo Miglior, Christine F. Baes, Flavio S. Schenkel   +11 more
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Identification of gene family members and a key structural variation reveal important roles of OVATE genes in regulating tea (Camellia sinensis) leaf development

Frontiers in Plant Science, 2022
OVATE genes are a new class of transcriptional repressors with important regulatory roles in plant growth and development. Through genome-wide analysis of the OVATE gene family of tea plants, 26 and 13 family members were identified in cultivated and ...
Yanlin An, Xiaobo Xia, Tingting Jing, Feng Zhang   +3 more
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Newest Methods for Detecting Structural Variations [PDF]

Trends in Biotechnology, 2019
A substantial amount of structural variation in the human genome remains uninvestigated due to the limitations of existing technologies, the presence of repetitive sequences, and the complexity of a diploid genome. New technologies have been developed, increasing resolution and appreciation of structural variation and how it affects human diversity and
Wouter De Coster, Christine Van Broeckhoven   +1 more
openaire   +3 more sources

Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study

Frontiers in Oncology, 2022
Risk-adapted treatment in acute lymphoblastic leukemia (ALL) relies on genetic information and measurable residual disease (MRD) monitoring. In this proof of concept study, DNA from diagnostic bone marrow (BM) of six children with ALL, without ...
Cecilia Arthur, Cecilia Arthur, Fatemah Rezayee, Fatemah Rezayee, Nina Mogensen, Nina Mogensen, Leonie Saft, Leonie Saft, Richard Rosenquist, Richard Rosenquist, Magnus Nordenskjöld, Magnus Nordenskjöld, Arja Harila-Saari, Emma Tham, Emma Tham, Gisela Barbany, Gisela Barbany   +16 more
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Somatic structural variation and cancer [PDF]

Briefings in Functional Genomics, 2015
With the advent of next-generation sequencing technologies, we have witnessed a rapid pace of discovery of new patterns of somatic structural variation in cancer genomes, and an attempt to figure out their underlying mechanisms. Some of these mechanisms are associated with particular cancer types, and in some cases are the main cause of the structural ...
openaire   +2 more sources

SCNVSim: somatic copy number variation and structure variation simulator [PDF]

BMC Bioinformatics, 2015
Somatically acquired structure variations (SVs) and copy number variations (CNVs) can induce genetic changes that are directly related to tumor genesis. Somatic SV/CNV detection using next-generation sequencing (NGS) data still faces major challenges introduced by tumor sample characteristics, such as ploidy, heterogeneity, and purity.
Qin, Maochun, Liu, Biao, Conroy, Jeffrey M, Morrison, Carl D, Hu, Qiang, Cheng, Yubo, Murakami, Mitsuko, Odunsi, Adekunle O, Johnson, Candace S, Wei, Lei, Liu, Song, Wang, Jianmin   +11 more
openaire   +2 more sources

Ten new high-quality genome assemblies for diverse bioenergy sorghum genotypes

Frontiers in Plant Science, 2023
IntroductionSorghum (Sorghum bicolor (L.) Moench) is an agriculturally and economically important staple crop that has immense potential as a bioenergy feedstock due to its relatively high productivity on marginal lands.
William G. Voelker, William G. Voelker, Krittika Krishnan, Krittika Krishnan, Kapeel Chougule, Louie C. Alexander, Louie C. Alexander, Zhenyuan Lu, Andrew Olson, Doreen Ware, Doreen Ware, Kittikun Songsomboon, Kittikun Songsomboon, Cristian Ponce, Cristian Ponce, Zachary W. Brenton, Zachary W. Brenton, J. Lucas Boatwright, J. Lucas Boatwright, Elizabeth A. Cooper, Elizabeth A. Cooper   +20 more
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