Results 101 to 110 of about 99,235 (279)

BiSCoT: Improving large eukaryotic genome assemblies with optical maps

PeerJ, 2019
ABSTRACT Motivation Long read sequencing and Bionano Genomics optical maps are two techniques that, when used together, make it possible to reconstruct entire chromosome or chromosome arms structure. However, the existing tools are often too conservative and organization of contigs into scaffolds is ...
Istace, Benjamin, Belser, Caroline, Aury, Jean-Marc   +2 more
openaire   +4 more sources

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Mitotic antipairing of homologous and sex chromosomes via spatial restriction of two haploid sets. [PDF]

, 2018
Pairing homologous chromosomes is required for recombination. However, in nonmeiotic stages it can lead to detrimental consequences, such as allelic misregulation and genome instability, and is rare in human somatic cells.
Hua, Lisa L, Mikawa, Takashi
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Using linkage maps to correct and scaffold de novo genome assemblies: Methods, challenges and computational tools

Frontiers in Genetics, 2015
Modern high-throughput DNA sequencing has made it possible to inexpensively produce genome sequences, but in practice many of these draft genomes are fragmented and incomplete.
Janna Lynn Fierst
doaj   +1 more source

Host-linked soil viral ecology along a permafrost thaw gradient [PDF]

, 2018
Climate change threatens to release abundant carbon that is sequestered at high latitudes, but the constraints on microbial metabolisms that mediate the release of methane and carbon dioxide are poorly understood1,2,3,4,5,6,7.
Bolduc, Benjamin, Boyd, Joel A., Brum, Jennifer R., Chanton, Jeffrey P., Crill, Patrick M., Emerson, Joanne B., Frolking, Stephen E., Hodgkins, Suzanne B., Jang, Ho Bin, Li, Changsheng, Naas, Adrian E., Pope, Phillip B., Rich, Virginia I., Roux, Simon, Saleska, Scott R., Singleton, Caitlin M., Solden, Lindsey M., Sullivan, Matthew B., Trubl, Gareth, Tyson, Gene W., Wilson, Rachel M., Woodcroft, Ben J., Wrighton, Kelly C.   +22 more
core   +1 more source

Effects of Causal Beliefs About Gout on Public Views About Gout Management: A Randomized Experimental Study

Arthritis Care &Research, EarlyView.
Objective Despite well‐described biologic causes, the public views unhealthy lifestyle choices as the primary cause of gout. This study investigated how causal beliefs about gout influence the public's views about its management. Methods In a randomized study, 201 members of the public viewed one of two 2‐minute videos about gout.
Rachel Murdoch, Borislav Mihov, Anne Horne, Keith J. Petrie, Gregory D. Gamble, Lachlan Fleck, Nicola Dalbeth   +6 more
wiley   +1 more source

Escherichia coli O104:H4 Infections and International Travel

Emerging Infectious Diseases, 2012
We analyzed travel-associated clinical isolates of Escherichia coli O104:H4, including 1 from the 2011 German outbreak and 1 from a patient who returned from the Philippines in 2010, by genome sequencing and optical mapping.
David C. Alexander, Weilong Hao, Matthew W. Gilmour, Sandra Zittermann, Alicia Sarabia, Roberto G. Melano, Analyn Peralta, Marina Lombos, Keisha Warren, Yuri Amatnieks, Evangeline Virey, Jennifer H. Ma, Frances B. Jamieson, Donald E. Low, Vanessa Allen   +14 more
doaj   +1 more source

Optical Mapping: Detecting Genomic Resistance Cassettes in MRSA

ACS Omega
Methicillin-resistant Staphylococcus aureus (MRSA) is a multidrug-resistant bacterium with a global presence in healthcare facilities as well as community settings. The resistance of MRSA to beta-lactam antibiotics can be attributed to a mobile genetic element called the staphylococcal cassette chromosome mec (SCCmec), ranging from 23 to 68 kilobase ...
Ruppeka-Rupeika, Elizabete, Abakumov, Sergey, Engelbrecht, Mattias, Chen, Xiong, do Carmo Linhares, Debora, Bouwens, Arno, Leen, Volker, Hofkens, Johan   +7 more
openaire   +4 more sources

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source