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Facilitating genome structural variation analysis

Nature Methods, 2023
Although structural variation is less explored than single-nucleotide variation, recent studies have shown it to be associated with several human diseases. Three fresh computational methods might help to elucidate this inadequately understood part of our genetic makeup.
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Variational Data Structures

Proceedings of the 2014 ACM International Symposium on New Ideas, New Paradigms, and Reflections on Programming & Software, 2014
Variation is everywhere, and in the construction and analysis of customizable software it is paramount. In this context, there arises a need for variational data structures for efficiently representing and computing with related variants of an underlying data type. So far, variational data structures have been explored and developed ad hoc.
Eric Walkingshaw   +4 more
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Variational metric structures

Publicationes Mathematicae Debrecen, 2003
Summary: Relations between Lagrangian structures, metric structures, and semispray connections on a manifold are investigated. Generalized Finsler structures (called quasifinslerian) are studied, coming from integrable time, position and velocity dependent metrics.
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Human subtelomere structure and variation

Chromosome Research, 2005
Work towards completion of the human reference genome sequence has revealed a great deal of complexity and plasticity in human subtelomeric regions. The highly variable subtelomeric repeat regions are filled with recently shuffled genomic segments, many of which contain sequences matching transcripts and transcript fragments; the rapid duplication and ...
H, Riethman, A, Ambrosini, S, Paul
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Variational Symplectic Structures

2017
A variational symplectic structure on an equation \(\mathcal {E}\) is a \(\mathcal {C}\)-differential operator \(\mathcal {S}\colon \varkappa = \mathcal {F}(\mathcal {E};m)\to \hat {P} = \mathcal {F}(\mathcal {E};r)\) that takes symmetries of \(\mathcal {E}\) to cosymmetries and enjoys additional integrability properties.
Joseph Krasil’shchik   +2 more
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Structural Variation in Subtelomeres

2011
Subtelomeres are an incredibly dynamic part of the human genome located at the ends of chromosomes just proximal to telomere repeats. Although subtelomeric variation contributes to normal polymorphism in the human genome and is a by-product of rapid evolution in these regions, rearrangements in subtelomeres can also cause intellectual disabilities and ...
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Structural Variation in PWWP Domains

Journal of Molecular Biology, 2003
The PWWP domain is a ubiquitous eukaryotic protein module characterised by a region of sequence similarity of approximately 80 amino acids containing a highly conserved PWWP motif. It is frequently found in proteins associated with chromatin. We have determined the structure of a PWWP domain from the S. pombe protein SPBC215.07c using NMR spectroscopy.
Leanne M, Slater   +2 more
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Structural variations among the kinesins

Trends in Cell Biology, 1995
Members of the kinesin family of motor proteins are assembled from kinesin-related polypeptides that share conserved 'motor' domains linked to diverse 'tail' domains. Recent work suggests that tail diversity underlies the differences in quaternary structure observed among native kinesin holoenzymes.
D G, Cole, J M, Scholey
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Variational Poisson Structures

2017
A variational Poisson structure on a differential equation \(\mathcal {E}\) is a \(\mathcal {C}\)-differential operator that takes cosymmetries of \(\mathcal {E}\) to its symmetries and possesses the necessary integrability properties. In the literature on integrable systems, Poisson structures are traditionally called Hamiltonian operators.
Joseph Krasil’shchik   +2 more
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Structural Variations of Potassium Aryloxides

Inorganic Chemistry, 2003
A series of potassium aryloxides (KOAr) were isolated from the reaction of a potassium amide (KN(SiMe(3))(2)) and the desired substituted phenoxide (oMP, 2-methyl; oPP, 2-iso-propyl; oBP, 2-tert-butyl; DMP, 2,6-di-methyl; DIP, 2,6-di-iso-propyl; DBP, 2,6-di-tert-butyl) in tetrahydrofuran (THF) or pyridine (py) as the following: [([K(mu(4)-oMP)(THF)][K ...
Timothy J, Boyle   +4 more
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