نتایج جستجو برای: structural variations

تعداد نتایج: 574181  

2011
Oded Farago Niels Grønbech-Jensen

We use a coarse-grained molecular model to study the self-assembly process of complexes of cationic and neutral lipids with DNA molecules (‘‘lipoplexes’’)—a promising nonviral carrier of DNA for gene therapy. We identify the resulting structures through direct visualization of the molecular arrangements and through calculations of the corresponding scattering plots. The latter approach provides...

Journal: :Cell 2013
Lixing Yang Lovelace J. Luquette Nils Gehlenborg Ruibin Xi Psalm S. Haseley Chih-Heng Hsieh Chengsheng Zhang Xiaojia Ren Alexei Protopopov Lynda Chin Raju Kucherlapati Charles Lee Peter J. Park

Identification of somatic rearrangements in cancer genomes has accelerated through analysis of high-throughput sequencing data. However, characterization of complex structural alterations and their underlying mechanisms remains inadequate. Here, applying an algorithm to predict structural variations from short reads, we report a comprehensive catalog of somatic structural variations and the mec...

2011
Richard Park Nils Gehlenborg Peter J Park

Genomic structural variations are known to play an important role in cancer and other diseases. Next-generation sequencing is a key technology for the identification of such variations, but current data and algorithms yield many false positives and false negative predictions. We have created a prototype tool called Seqeyes to explore and interpret predicted structural variations to help guide e...

Journal: :Nucleic acids research 1990
H A Heus O C Uhlenbeck A Pardi

The discovery of in vivo catalytic activity for the hammerhead RNA self-cleaving domain has led to the development of a new class of sequence-specific RNA endonucleases. Two such ribozymes have been synthesized using in vitro transcription with T7 polymerase and their structures have been studied by optical spectroscopy, nuclear magnetic resonance and nondenaturing gel electrophoresis. These da...

Journal: :Journal of virology 2008
Lars Pache Sangita Venkataraman Vijay S Reddy Glen R Nemerow

A majority of species B adenoviruses (Ads) use CD46 as their primary receptor; however, the precise mechanisms involved in the binding of different Ad types to CD46 have not been resolved. Although previous studies indicate close similarities between two members of species B2 Ads in their usage of CD46, our current investigations revealed a surprisingly low CD46 binding affinity of the species ...

2016
Yang Li Shiguo Zhou David C. Schwartz Jian Ma

Aneuploidy and structural variations (SVs) generate cancer genomes containing a mixture of rearranged genomic segments with extensive somatic copy number alterations. However, existing methods can identify either SVs or allele-specific copy number alterations but not both simultaneously, which provides a limited view of cancer genome structure. Here, we introduce Weaver, an algorithm for the qu...

Journal: :Cell reports 2014
Xiang Chen Armita Bahrami Alberto Pappo John Easton James Dalton Erin Hedlund David Ellison Sheila Shurtleff Gang Wu Lei Wei Matthew Parker Michael Rusch Panduka Nagahawatte Jianrong Wu Shenghua Mao Kristy Boggs Heather Mulder Donald Yergeau Charles Lu Li Ding Michael Edmonson Chunxu Qu Jianmin Wang Yongjin Li Fariba Navid Najat C Daw Elaine R Mardis Richard K Wilson James R Downing Jinghui Zhang Michael A Dyer

Pediatric osteosarcoma is characterized by multiple somatic chromosomal lesions, including structural variations (SVs) and copy number alterations (CNAs). To define the landscape of somatic mutations in pediatric osteosarcoma, we performed whole-genome sequencing of DNA from 20 osteosarcoma tumor samples and matched normal tissue in a discovery cohort, as well as 14 samples in a validation coho...

2012
Jihyun Moon Seung Jae Baik Byungsung O Jeong Chul Lee

The emergence of third-generation photovoltaics based on Si relies on tunable bandgap materials with embedded nanocrystalline Si. One of the most promising approaches is based on the mixed-phase Si1 - xCx. We have investigated the light absorption controllability of nanocrystalline Si-embedded Si1 - xCx produced by thermal annealing of the Si-rich Si1 - xCx and composition-modulated superlattic...

Journal: :Dalton transactions 2015
Daniel D'Alessio Daniel M Lombardo Jamila G Vaughan Brian W Skelton Keith R Barnard Mark I Ogden

Despite the long term interest in hydroxyoximes as metal ion extractants, there is a lack of information on the possible coordination modes these ligands can assume, particularly in concert with a co-ligand. This is pertinent to the use of these extractants in synergistic systems, where a combination of extractants can achieve commercially useful results. We report here the structures of some m...

2013
Manoj Kumar Tushar Agarwal Punit Kaur Manoj Kumar Sudarshan Khokhar, Rima Dada

OBJECTIVE To determine the relative contributions of mutations in congenital cataract cases in an Indian population by systematic screening of genes associated with cataract. METHODS We enrolled 100 congenital cataract cases presenting at the Dr. R. P. Centre for Ophthalmic Sciences, a tertiary research and referral hospital (AIIMS, New Delhi, India). Crystallin, alpha A (CRYAA), CRYAB, CRYGs...

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