Results 21 to 30 of about 374,677 (247)
A Worldwide Map of Human Structural Variants [PDF]
Trends in Genetics, 2020 Genomic variation extends from single nucleotide variants to large chromosomal rearrangements, but the extent of structural variation in Homo sapiens is still unclear. Almarri et al. provide a worldwide catalogue of structural variants present in human populations.
Montinaro, F, Capelli, C
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Molecular Genetics & Genomic Medicine, 2019 Background Autism spectrum disorder is commonly co‐diagnosed intellectual disability, language disorder, anxiety, and epilepsy, however, symptom management is difficult due to the complex genetic nature of ASD.
Kristy Jay +4 more
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Structural Variations in the Genome of Potato Varieties of the Ural Selection
Agronomy, 2021 Potato (Solanum tuberosum L.) is the third most common plant crop in the world. Many studies, such as those using marker-assisted selection (MAS), are devoted to the genomic evaluation of potato.
Georgiy A. Lihodeevskiy +1 more
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GRIDSS2: comprehensive characterisation of somatic structural variation using single breakend variants and structural variant phasing [PDF]
Genome Biology, 2020 AbstractGRIDSS2 is the first structural variant caller to explicitly report single breakends—breakpoints in which only one side can be unambiguously determined. By treating single breakends as a fundamental genomic rearrangement signal on par with breakpoints, GRIDSS2 can explain 47% of somatic centromere copy number changes using single breakends to ...
Daniel L. Cameron +9 more
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Animals, 2021 Structural variations (SVs) are large DNA segments of deletions, duplications, copy number variations, inversions and translocations in a re-sequenced genome compared to a reference genome.
Long Chen +3 more
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Spectrum and Density of Gamma and X-ray Induced Mutations in a Non-Model Rice Cultivar
Plants, 2022 Physical mutagens are a powerful tool used for genetic research and breeding for over eight decades. Yet, when compared to chemical mutagens, data sets on the effect of different mutagens and dosages on the spectrum and density of induced mutations ...
Joanna Jankowicz-Cieslak +7 more
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Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities
Frontiers in Genetics, 2020 The molecular pathogenesis of hematological diseases is often driven by genetic and epigenetic alterations. Next-generation sequencing has considerably increased our genomic knowledge of these disorders becoming ever more widespread in clinical practice.
Crescenzio Francesco Minervini +6 more
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Structural Characterization of Histone H2A Variants [PDF]
Cold Spring Harbor Symposia on Quantitative Biology, 2004 protein to form chromatin, the fundamental unit of which is the nucleosome core particle (NCP). An NCP consists of two copies each of the four core histones H2A, H2B, H3, and H4. This histone octamer binds 147 base pairs of DNA around its outer surface in 1.65 tight superhelical turns (Fig. 1A) (Luger et al. 1997; Richmond and Davey 2003).
Chakravarthy, S +4 more
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Enzyme structure correlates with variant effect predictability
Computational and Structural Biotechnology Journal, 2023 AbstractProtein engineering increasingly relies on machine learning models to computationally pre-screen promising novel candidates. Although machine learning approaches have proven effective, their performance on prospective screening data leaves room for improvement; prediction accuracy can vary greatly from one protein variant to the next.
Floris van der Flier +12 more
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Biologics, 2023 Background: Gene fusions occur when two independent genes form a hybrid gene through genomic rearrangements, which often leads to abnormal expression and function of an encoded protein.
Sourat Darabi +4 more
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