Results 41 to 50 of about 864,768 (299)

SMaSH: A Benchmarking Toolkit for Human Genome Variant Calling

, 2014
Motivation: Computational methods are essential to extract actionable information from raw sequencing data, and to thus fulfill the promise of next-generation sequencing technology. Unfortunately, computational tools developed to call variants from human
Bresler, Ma'ayan, Curtis, Kristal, Hartl, Christopher, Jordan, Michael I., Liptrap, Jesse, Newcomb, Julie, Patterson, David, Song, Yun S., Talwalkar, Ameet, Terhorst, Jonathan   +9 more
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Cerebellar Integrity in the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia Continuum [PDF]

, 2014
Amyotrophic lateral sclerosis (ALS) and behavioural variant frontotemporal dementia (bvFTD) are multisystem neurodegenerative disorders that manifest overlapping cognitive, neuropsychiatric and motor features.
A Giordano, AE Renton, BR Brooks, C Dobson-Stone, C Habas, C Lomen-Hoerth, C Mottolese, C Wedderburn, Carol Dobson-Stone, CJ Mahoney, CJ O'Halloran, CJ Stoodley, CJ Stoodley, CJ Stoodley, CJ Stoodley, CM Clark, D Seok Yi, DJ Irwin, DM Mezzapesa, E Mioshi, E Mioshi, E Mioshi, E Sbardella, EC Lauterbach, Emma Devenney, F Begeti, FA Middleton, FM Krienen, Glenda M. Halliday, GM Ringholz, H Baillieux, H Yoshida, HJ Rosen, HJ Rosen, J Kassubek, J Phukan, J Senda, Jan Kassubek, JD Schmahmann, JD Schmahmann, JH Balsters, JL Chang, JL Whitwell, JL Whitwell, JL Whitwell, JLR Andersson, JM Cedarbaum, John B. Kwok, John R. Hodges, JR Burrell, JS Snowden, JX O'Reilly, K Rascovsky, KA Josephs, L Thivard, LT Takada, M Irish, M Neumann, Matthew C. Kiernan, MC Kiernan, Michael Hornberger, MJ Strong, MP Alexander, MR Turner, O Hardiman, P Lillo, P Lillo, P McColgan, R Villanueva, Rachel H. Tan, RM Kelly, SM Smith, SM Smith, T Kanda, TE Nichols, TH Bak, V Garibotto, WW Seeley, Y Zhang, Z Chen, Z Terpening   +80 more
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Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population [PDF]

, 2020
Objectives: The cause of Meniere's disease (MD) is unclear but likely involves genetic and environmental factors. The aim of this study was to investigate the genetic basis underlying MD by screening putative candidate genes for MD.
Arweiler-Harbeck, Begovich, Brama, Cabrera, Campbell, de Lima, Doi, Dong, Eichler, Filipo, Flook, Foster, Frejo, Frejo, Frejo, Furuta, Gallego-Martinez, Gazquez, Gazquez, Girirajan, Greco, Hietikko, Huang, Kawaguchi, Khorsandi, Kim, Kimura, Klar, Koo, Lee, Lee, Lee, Lee, Lettre, Li, Li, Lien, Lien, Liew, Lopez-Escamez, Lopez-Escamez, Lopez-Escamez, Lopez-Escamez, Marcus, Martín-Sierra, Martín-Sierra, Melchiorri, Meng, Morrison, Mustelin, Nair, Nair, Nair, Nishio, Oliveira-Paula, Qin, Rasheed, Rauch, Recupero, Reich, Rentzsch, Requena, Requena, Requena, Requena, Roman-Naranjo, Saint Pierre, Schwanitz, Shu, Sun, Takumida, Teggi, Teggi, Teggi, Teranishi, Tilburg, Tomoda, Uchida, Vrabec, Yang, Yazdani, Yazdani   +81 more
core   +1 more source

NLC-2 graph recognition and isomorphism [PDF]

, 2007
NLC-width is a variant of clique-width with many application in graph algorithmic. This paper is devoted to graphs of NLC-width two. After giving new structural properties of the class, we propose a $O(n^2 m)$-time algorithm, improving Johansson's ...
B. Courcelle, C.P. Gabor, E. Dahlhaus, E. Dahlhaus, E. Wanke, F. Gurski, J.-L. Fouquet, M. Chein, M. Habib, R.M. McConnell, T. Gallai, W.H. Cunningham, W.H. Cunningham, Ö. Johansson   +13 more
core   +6 more sources

Structural variant calling: the long and the short of it [PDF]

Genome Biology, 2019
AbstractRecent research into structural variants (SVs) has established their importance to medicine and molecular biology, elucidating their role in various diseases, regulation of gene expression, ethnic diversity, and large-scale chromosome evolution—giving rise to the differences within populations and among species. Nevertheless, characterizing SVs
Medhat Mahmoud, Nastassia Gobet, Diana Ivette Cruz-Dávalos, Ninon Mounier, Christophe Dessimoz, Fritz J. Sedlazeck   +5 more
openaire   +5 more sources

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11 [PDF]

, 2016
Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects ...
Ashworth, M, Baksi, AJ, Barton, PJR, Buchan, RJ, Cook, SA, Daubeney, P, Homfray, T, John, S, McKee, S, Murday, V, Prasad, S, Rea, G, Roses-Noguer, F, Stewart, FJ, Taylor, RW, Till, J, Walsh, R, Ware, JS, Wilk, A, Wilkinson, S   +19 more
core   +1 more source

Histone variants--the structure behind the function [PDF]

Briefings in Functional Genomics and Proteomics, 2006
In recent years, the chromatin field has witnessed a renewed interest in histone variants as pertaining to their structural role, but mainly because of the functional specificity they impart to chromatin. In this review, I am going to discuss several of the most recent structural studies on core histone (H2A.Bbd, H2A.Z, H2A.X, macroH2A, H3.3, CENP-A ...
openaire   +2 more sources

Structural Characterization of the Histone Variant macroH2A [PDF]

Molecular and Cellular Biology, 2005
macroH2A is an H2A variant with a highly unusual structural organization. It has a C-terminal domain connected to the N-terminal histone domain by a linker. Crystallographic and biochemical studies show that changes in the L1 loop in the histone fold region of macroH2A impact the structure and potentially the function of nucleosomes.
Srinivas, Chakravarthy, Sampath Kumar Y, Gundimella, Cecile, Caron, Pierre-Yves, Perche, John R, Pehrson, Saadi, Khochbin, Karolin, Luger   +6 more
openaire   +2 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, Omar, Noor, Amina, Sebat, Jonathan, Chaisson, Mark J. P., Sanders, Ashley D., Zhao, Xuefang, Malhotra, Ankit, Porubsky, David, Rausch, Tobias, Gardner, Eugene J., Rodriguez, Oscar L., Guo, Li, Collins, Ryan L., Fan, Xian, Wen, Jia, Handsaker, Robert E., Fairley, Susan, Kronenberg, Zev N., Kong, Xiangmeng, Hormozdiari, Fereydoun, Lee, Dillon, Wenger, Aaron M., Hastie, Alex R., Antaki, Danny, Anantharaman, Thomas, Audano, Peter A., Brand, Harrison, Cantsilieris, Stuart, Cao, Han, Cerveira, Eliza, Chen, Chong, Chen, Xintong, Chin, Chen-Shan, Chong, Zechen, Chuang, Nelson T., Lambert, Christine C., Church, Deanna M., Clarke, Laura, Farrell, Andrew, Flores, Joey, Galeey, Timur, Gujral, Madhusudan, Guryev, Victor, Heaton, William Haynes, Korlach, Jonas, Kumar, Sushant, Kwon, Jee Young, Spierings, Diana C. J., Xu, Wei, Lansdorp, Peter M.   +49 more
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Detecting large deletions at base pair level by combining split read and paired read data

BMC Bioinformatics, 2017
Background Genomic structural variants (SV) play a significant role in the onset and progression of cancer. Genomic deletions can create oncogenic fusion genes or cause the loss of tumor suppressing gene function which can lead to tumorigenesis by ...
Matthew Hayes, Jeremy S. Pearson
doaj   +1 more source