Results 41 to 50 of about 15,084,422 (295)

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads [PDF]

, 2021
Human genomes are typically assembled as consensus sequences that lack information on parental haplotypes. Here we describe a reference-free workflow for diploid de novo genome assembly that combines the chromosome-wide phasing and scaffolding ...
Sorensen, Melanie, Ebler, Jana, Marijon, P., Ebert, Peter, Sanders, A.D., Pierre Marijon, Mitchell R. Vollger, Korbel, J., Marijon, Pierre, Paten, B., Harvey, W.T., Melanie Sorensen, Benedict Paten, Ashley D. Sanders, Marschall, T., Sulovari, A., Haukness, Marina, Lee, Charles, Maryam Ghareghani, Audano, P., Peter A. Audano, Scott E. Devine, Structural Variation Consortium, Human Genome, Ebert, P., Marschall, Tobias, Paten, Benedict, Katherine M. Munson, Ebler, J., Harvey, W., Peter Ebert, Lansdorp, P., David Porubsky, Jan O. Korbel, Chaisson, Mark J P, Haukness, M., William T. Harvey, Eichler, E.E., Arvis Sulovari, Eichler, E., Chaisson, M.J.P., Chaisson, M., Vollger, Mitchell R, Vollger, M.R., Sanders, Ashley D, Evan E. Eichler, Ghareghani, M., Harvey, William T, Tobias Marschall, Jana Ebler, Peter M. Lansdorp, Mark J. P. Chaisson, Devine, Scott E, Lansdorp, P.M., Sanders, A., Audano, P.A., Eichler, Evan E, Porubsky, D., Sulovari, Arvis, Devine, S.E., Devine, S., Ghareghani, Maryam, Porubsky, David, Munson, K.M., Vollger, M., Sorensen, M., Audano, Peter A, Charles Lee, Lansdorp, Peter M, Munson, Katherine M, Munson, K., Korbel, J.O., Marina Haukness, Korbel, Jan O, Lee, C.   +73 more
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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

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

npj Genomic Medicine, 2022
There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up to 60%. Both Mendelian and small effect variants have been identified, but in common with other conditions, such variants only explain a
A. Al Khleifat, A. Iacoangeli, Joke J. F. A. van Vugt, H. Bowles, M. Moisse, R. Zwamborn, R. V. D. van der Spek, A. Shatunov, J. Cooper-Knock, S. Topp, R. Byrne, C. Gellera, Victoria López, A. Jones, S. Opie-Martin, Atay Vural, Y. Campos, W. van Rheenen, Brendan J. Kenna, K. van Eijk, K. Kenna, Markus Weber, Bradley Smith, I. Fogh, V. Silani, K. Morrison, Richard J. B. Dobson, M. van Es, R. Mclaughlin, P. Vourc'h, A. Chiò, P. Corcia, Mamede de Carvalho, M. Gotkine, M. P. Panadés, J. Mora, P. Shaw, J. Landers, J. Glass, C. Shaw, N. Başak, O. Hardiman, W. Robberecht, P. van Damme, L. H. van den Berg, J. Veldink, A. Al-Chalabi   +46 more
semanticscholar   +1 more source

Aspects of Linguistic Variation [PDF]

, 2018
This volume brings together papers on linguistic variation. It takes a broad perspective, covering not only crosslinguistic and diachronic but also intralinguistic and interspeaker variation, and examines phenomena ranging from negation and TAM over ...

core   +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

Genome structural variation in human evolution.

Trends in Genetics, 2021
Structural variation (SV) is a large difference (typically >100 bp) in the genomic structure of two genomes and includes both copy number variation and variation that does not change copy number of a genomic region, such as an inversion.
E. Hollox, L. Zuccherato, S. Tucci
semanticscholar   +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

Structural variation at the maize WUSCHEL1 locus alters stem cell organization in inflorescences

Nature Communications, 2021
Structural variation in plant genomes is a significant driver of phenotypic variability in traits important for the domestication and productivity of crop species.
Zong-Liang Chen, Wei Li, Craig Gaines, Amy Buck, M. Galli, A. Gallavotti   +5 more
semanticscholar   +1 more source

GRIDSS2: comprehensive characterisation of somatic structural variation using single breakend variants and structural variant phasing

Genome Biology, 2021
GRIDSS2 is the first structural variant caller to explicitly report single breakends—breakpoints in which only one side can be unambiguously determined.
D. Cameron, Jonathan Baber, C. Shale, J. E. Valle-Inclán, N. Besselink, A. van Hoeck, Roel Janssen, E. Cuppen, P. Priestley, A. Papenfuss   +9 more
semanticscholar   +1 more source