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Balancing selection on genomic deletion polymorphisms in humans
eLife, 2023 A key question in biology is why genomic variation persists in a population for extended periods. Recent studies have identified examples of genomic deletions that have remained polymorphic in the human lineage for hundreds of millennia, ostensibly owing
Alber Aqil +3 more
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Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
Nature Communications, 2021 Variable number tandem repeats (VNTRs) are difficult to analyze by short-read sequencing in disease studies. Here, the authors describe a VNTR mapping strategy for short-read analyses using a repeat pangenome graph.
Tsung-Yu Lu +2 more
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Structure Tensor Total Variation [PDF]
SIAM Journal on Imaging Sciences, 2015 Summary: We introduce a novel generic energy functional that we employ to solve inverse imaging problems within a variational framework. The proposed regularization family, termed as structure tensor total variation (STV), penalizes the eigenvalues of the structure tensor and is suitable for both grayscale and vector-valued images.
Lefkimmiatis, S +3 more
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The effects of common structural variants on 3D chromatin structure
BMC Genomics, 2020 Background Three-dimensional spatial organization of chromosomes is defined by highly self-interacting regions 0.1–1 Mb in size termed Topological Associating Domains (TADs).
Omar Shanta +3 more
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Structural variations in papaya genomes [PDF]
BMC Genomics, 2021 Abstract Background Structural variations (SVs) are a type of mutations that have not been widely detected in plant genomes and studies in animals have shown their role in the process of domestication. An in-depth study of SVs will help us to further understand the impact of SVs on the phenotype and environmental ...
Zhenyang Liao +5 more
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Analysis of unmapped regions associated with long deletions in Korean whole genome sequences based on short read data [PDF]
Genomics & Informatics, 2019 While studies aimed at detecting and analyzing indels or single nucleotide polymorphisms within human genomic sequences have been actively conducted, studies on detecting long insertions/deletions are not easy to orchestrate.
Yuna Lee, Kiejung Park, Insong Koh
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Journal of Fungi, 2022 Genome rearrangements in filamentous fungi are prevalent but little is known about the modalities of their evolution, in part because few complete genomes are available within a single genus.
Mathieu Quenu +10 more
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Molecules, 2021 One-pot reaction of the Schiff base N,N’-ethylene bis(salicylaldimine) (H2L), CoCl2.6H2O, and [Ph2SnCl2] in acetone produces the mixed valence CoIICoIII2 compound [CoIICoIII2(μ-L)2(Ph)2(μ-Cl)2]·(CH3)2CO·H2O (1). Our recent study already revealed that the
Susanta Hazra +5 more
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Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis
Acta Obstetricia et Gynecologica Scandinavica, 2023 Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang +12 more
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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
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