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Shaping immunity: Genetic diversity as a key resource for crop protection. [PDF]
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Facilitating genome structural variation analysis
Nature Methods, 2023Although 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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Resolving genomic structural variation
Science, 2021Human Genomics Many human genomes have been reported using short-read technology, but it is difficult to resolve structural variants (SVs) using these data. These genomes thus lack comprehensive comparisons among individuals and populations. Ebert et al.
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Genome structural variation in human evolution
Trends in Genetics, 2022Structural variation (SV) is a large difference (typically >100 bp) in the genomic structure of two genomes and includes both copy number variation and variation that does not change copy number of a genomic region, such as an inversion. Improved reference genomes, combined with widespread genome sequencing using short-read sequencing technology, and ...
Edward J. Hollox +2 more
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Structural Genomic Variation and Personalized Medicine
New England Journal of Medicine, 2008Large-scale genomic deletions, duplications, and inversions represent a major source of variation among persons; thus, new approaches to probing disease susceptibility are warranted.
Lee, Charles, Morton, Cynthia C
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Genome-wide analysis of structural variation
Nature Methods, 2021Phased genomes from diverse human populations are assembled using multiple sequencing technologies.
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