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Structural variation in the sequencing era
Nature 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
Structural variation in the 3D genome [PDF]
Nature 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
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SIns: A Novel Insertion Detection Approach Based on Soft-Clipped Reads
Frontiers in Genetics, 2021 As a common type of structural variation, an insertion refers to the addition of a DNA sequence into an individual genome and is usually associated with some inherited diseases.
Chaokun Yan +5 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.
Stamatios Lefkimmiatis +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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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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SINE Insertion in the Intron of Pig GHR May Decrease Its Expression by Acting as a Repressor
Animals, 2021 The genetic diversity of the GH/IGF axis genes and their association with the variation of gene expression and phenotypic traits, principally represented by SNPs, have been extensively reported.
Cai Chen +8 more
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Symmetry and Variation of Hodge Structures [PDF]
Asian Journal of Mathematics, 2004 The main problem addressed in the paper is the Torelli problem for n-dimensional varieties of general type, more specifically for varieties with ample canonical bundle. It asks under which geometrical condition for a variety the period map for the Hodge structure of weight n is a local embedding.
Bauer , I. C., Catanese , F.
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The population genetics of structural variation [PDF]
Nature Genetics, 2007 Population genetics is central to our understanding of human variation, and by linking medical and evolutionary themes, it enables us to understand the origins and impacts of our genomic differences. Despite current limitations in our knowledge of the locations, sizes and mutational origins of structural variants, our characterization of their ...
Donald F, Conrad, Matthew E, Hurles
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