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Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomes

open access: yes
Rhie A   +17 more
europepmc   +1 more source

Cation Induced Structural Variation in Topochemically Modified Dion-Jacobson Perovskite Solid Solutions. [PDF]

open access: yesMolecules
Bhuvan R   +5 more
europepmc   +1 more source
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Deep Variational and Structural Hashing

IEEE Transactions on Pattern Analysis and Machine Intelligence, 2020
In this paper, we propose a deep variational and structural hashing (DVStH) method to learn compact binary codes for multimedia retrieval. Unlike most existing deep hashing methods which use a series of convolution and fully-connected layers to learn binary features, we develop a probabilistic framework to infer latent feature representation inside the
Venice Erin Liong   +3 more
openaire   +3 more sources

Structural variation in the 3D genome [PDF]

open access: yesNature Reviews Genetics, 2018
Structural and quantitative chromosomal rearrangements, collectively referred to as structural variation (SV), contribute to a large extent to the genetic diversity of the human genome and thus are of high relevance for cancer genetics, rare diseases and evolutionary genetics.
Malte Spielmann   +2 more
exaly   +4 more sources

Structural variation in the sequencing era

open access: yesNature Reviews Genetics, 2019
Identifying structural variation (SV) is essential for genome interpretation but has been historically difficult due to limitations inherent to available genome technologies. Detection methods that use ensemble algorithms and emerging sequencing technologies have enabled the discovery of thousands of SVs, uncovering information about their ubiquity ...
Alexander Urban, Steve Ho, Ryan Mills
exaly   +4 more sources

Monodromy of Variations of Hodge Structure

Acta Applicandae Mathematica, 2003
The \(k\)th primitive cohomology group \(H^k_{\text{prim}}(X)\) of a smooth projective variety \(X\) is known to carry a weight \(k\) polarized rational Hodge structure. For a family of those over a smooth connected base manifold \(S\), the cohomology groups glue together to a local system on \(S\).
Peters, C.A.M., Steenbrink, J.H.M.
openaire   +4 more sources

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