Results 11 to 20 of about 4,111,769 (301)

Inferring structural variant cancer cell fraction [PDF]

Nature Communications, 2020
The authors present SVclone, a computational method for inferring the cancer cell fraction of structural variants from whole-genome sequencing data.
Marek Cmero, Ke Yuan, Cheng Soon Ong, Jan Schröder, PCAWG Evolution and Heterogeneity Working Group, Niall M. Corcoran, Tony Papenfuss, Christopher M. Hovens, Florian Markowetz, Geoff Macintyre, PCAWG Consortium   +10 more
doaj   +2 more sources

AIDS and food insecurity: ‘New variant famine’ in Malawi? [PDF]

, 2007
In the midst of the 2002/3 food crisis in Southern Africa social scientists De Waal and Whiteside (well known for their respective work on the social construction of famines and the socio-economic impacts of AIDS in sub-Saharan Africa), hypothesised in ...
Ansell, N, Chipeta, L, van Blerk, L, Robson, E, Hajdu, F   +4 more
core   +7 more sources

Space-variant picture coding [PDF]

, 2010
PhDSpace-variant picture coding techniques exploit the strong spatial non-uniformity of the human visual system in order to increase coding efficiency in terms of perceived quality per bit.
Popkin, Timothy John
core   +4 more sources

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.
openaire   +3 more sources

Canine reference genome accuracy impacts variant calling: Lessons learned from investigating embryonic lethal variants [PDF]

, 2022
Deficient homozygosity of a variant maintained in a population suggests that the variant may be embryonic lethal. We examined whole genome sequence data from 675 canids to investigate for variants with missing homozygosity and high predicted impact ...
Dog Biomedical Variant Database, Consortium, Kinsey, Nathan A., Belanger, Janelle M., Oberbauer, Anita M.   +3 more
core   +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
openaire   +3 more sources

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
openaire   +4 more sources

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
openaire   +5 more sources

Characterization of Trypanosoma brucei gambiense variant surface glycoprotein LiTat 1.5 [PDF]

, 2012
At present, all available diagnostic antibody detection tests for Trypanosoma brucei gambiense human African trypanosomiasis are based on predominant variant surface glycoproteins (VSGs), such as VSG LiTat 1.5. During investigations aiming at replacement
Rogé, S., Lejon, V., Guisez, Y., Guisez, Yves, Van Nieuwenhove, L., Büscher, P., Rog\ue9, S.   +6 more
core   +1 more source

Structural Changes of Yellow Cameleon Domains Observed by Quantitative FRET Analysis and Polarized Fluorescence Correlation Spectroscopy [PDF]

, 2008
Förster resonance energy transfer (FRET) is a widely used method for monitoring interactions between or within biological macromolecules conjugated with suitable donor-acceptor pairs.
Laptenok, S., Visser, N.V., Kalinin, S., Hornen, H., Hoek, A., van, Kühnemuth, R., Borst, J.W., van Hoek, A., Westphal, A.H., Aker, J., Aker, J.C.M., Kyhnemuth, R., Laptenok, S.P., Seidel, C.A.M., Visser, A.J.W.G.   +14 more
core   +1 more source