Results 51 to 60 of about 4,524,973 (357)

Tetraodon genome confirms Takifugu findings : most fish are ancient polyploids [PDF]

, 2004
An evolutionary hypothesis suggested by studies of the genome of the tiger pufferfish Takifugu rubripes has now been confirmed by comparison with the genome of a close relative, the spotted green pufferfish Tetraodon nigroviridis.
Van de Peer, Yves
core   +1 more source

Improved reference genome of the arboviral vector Aedes albopictus [PDF]

, 2020
Background: The Asian tiger mosquito Aedes albopictus is globally expanding and has become the main vector for human arboviruses in Europe. With limited antiviral drugs and vaccines available, vector control is the primary approach to prevent mosquito ...
Akbari, Omar,, Antoshechkin, Igor, Biedler, James,, Bonizzoni, Mariangela, Caccone, Adalgisa, Cosme, Luciano,, Crawford, Jacob,, Failloux, Anna-Bella, Gamez, Stephanie, Ghurye, Jay, Halbach, Rebecca, Jenrette, Jeremy, Johnston, J. Spencer, Karagodin, Dmitry,, Koren, Sergey, Krsticevic, Flavia, Marconcini, Michele, Masri, Reem,, Masterson, Patrick, Miesen, Pascal, Palatini, Umberto, Papathanos, Philippos,, Phillippy, Adam,, Pischedda, Elisa, Powell, Jeffrey, Rhie, Arang, Sharakhova, Maria,, Sharma, Atashi, Thibaud-Nissen, Francoise, Tu, Zhijian, van Rij, Ronald,   +30 more
core   +5 more sources

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Genome Biology
Background The Critical Assessment of Genome Interpretation (CAGI) aims to advance the state-of-the-art for computational prediction of genetic variant impact, particularly where relevant to disease.
The Critical Assessment of Genome Interpretation Consortium
doaj   +1 more source

Towards Better Understanding of Artifacts in Variant Calling from High-Coverage Samples [PDF]

, 2015
Motivation: Whole-genome high-coverage sequencing has been widely used for personal and cancer genomics as well as in various research areas. However, in the lack of an unbiased whole-genome truth set, the global error rate of variant calls and the ...
Li, Heng
core   +1 more source

Trinity: reconstructing a full-length transcriptome without a genome from RNA-Seq data

Nature Biotechnology, 2011
Massively parallel sequencing of cDNA has enabled deep and efficient probing of transcriptomes. Current approaches for transcript reconstruction from such data often rely on aligning reads to a reference genome, and are thus unsuitable for samples with a
M. Grabherr, B. Haas, Moran Yassour, J. Levin, Dawn A Thompson, I. Amit, Xian Adiconis, Lin Fan, R. Raychowdhury, Q. Zeng, Zehua Chen, E. Mauceli, N. Hacohen, A. Gnirke, Nicholas Rhind, F. Di Palma, B. Birren, C. Nusbaum, K. Lindblad-Toh, N. Friedman, A. Regev   +20 more
semanticscholar   +1 more source

Towards complete and error-free genome assemblies of all vertebrate species

Nature, 2020
High-quality and complete reference genome assemblies are fundamental for the application of genomics to biology, disease, and biodiversity conservation. However, such assemblies are available for only a few non-microbial species1–4.
A. Rhie, Shane A. McCarthy, O. Fedrigo, J. Damas, G. Formenti, S. Koren, Marcela Uliano-Silva, W. Chow, Arkarachai Fungtammasan, Juwan Kim, Chul Lee, Byung June Ko, Mark J. P. Chaisson, Gregory L. Gedman, Lindsey J. Cantin, F. Thibaud-Nissen, Leanne Haggerty, I. Bista, Michelle Smith, B. Haase, J. Mountcastle, S. Winkler, S. Paez, Jason T. Howard, S. Vernes, Tanya M. Lama, F. Grutzner, W. Warren, C. N. Balakrishnan, D. Burt, J. George, Matthew T. Biegler, D. Iorns, A. Digby, D. Eason, B. Robertson, T. Edwards, M. Wilkinson, G. Turner, A. Meyer, Andreas F. Kautt, P. Franchini, H. Detrich, H. Svardal, M. Wagner, G. Naylor, Martin Pippel, M. Malinsky, M. Mooney, Maria Simbirsky, B. Hannigan, Trevor Pesout, M. Houck, Ann Misuraca, S. Kingan, R. Hall, Zev N. Kronenberg, Ivan Sovic, Christopher Dunn, Z. Ning, A. Hastie, Joyce Lee, Siddarth Selvaraj, R. Green, Nicholas H. Putnam, I. Gut, Jay Ghurye, Erik K. Garrison, Y. Sims, J. Collins, S. Pelan, J. Torrance, A. Tracey, J. Wood, Robel Dagnew, Dengfeng Guan, Sarah E. London, D. F. Clayton, C. Mello, Samantha R. Friedrich, P. Lovell, E. Osipova, F. Al-Ajli, Simona Secomandi, Heebal Kim, C. Theofanopoulou, Michael Hiller, Yang Zhou, Robert S. Harris, K. Makova, P. Medvedev, J. Hoffman, P. Masterson, Karen Clark, Fergal J. Martin, Kevin Howe, P. Flicek, B. Walenz, Woori Kwak, H. Clawson, M. Diekhans, Luis R. Nassar, Benedict Paten, R. Kraus, A. Crawford, M. Gilbert, Guojie Zhang, B. Venkatesh, R. Murphy, Klaus‐Peter Koepfli, B. Shapiro, W. Johnson, F. Di Palma, Tomàs Marquès-Bonet, E. Teeling, T. Warnow, J. Graves, O. Ryder, D. Haussler, S. O’Brien, J. Korlach, H. Lewin, K. Howe, E. Myers, R. Durbin, A. Phillippy, E. Jarvis   +126 more
semanticscholar   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

A Genome Sequence Resource of Diaporthe nobilis Causing Kiwifruit Rot

PhytoFrontiers
Diaporthe spp. are a significant plant pathogen causing wood canker, blight, dieback, and fruit decay in numerous economically important plant hosts worldwide. D.
Huanhuan Li, Shukun Yu, Xiaofeng Tang, Yongsheng Liu, Min Miao   +4 more
doaj   +1 more source

Meta-Analysis of Genome-Wide Linkage Studies in Celiac Disease. [PDF]

, 2009
OBJECTIVE: A meta-analysis of genome-wide linkage studies allows us to summarize the extensive information available from family-based studies, as the field moves into genome-wide association studies. METHODS: Here we apply the genome scan meta-analysis
Babron MC, Ciclitira PJ, Forabosco P, GRECO, LUIGI, Houlston RS, Lewis C.M., Naluai AT, Neuhausen SL, Saavalainen P, Wijmenga C   +9 more
core   +1 more source

CADD: predicting the deleteriousness of variants throughout the human genome

Nucleic Acids Res., 2018
Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particularly highly penetrant contributors to severe Mendelian disorders.
Philipp Rentzsch, Daniela M. Witten, G. Cooper, J. Shendure, Martin Kircher   +4 more
semanticscholar   +1 more source