Chapter 6: Structural Variation and Medical Genomics
PLoS Computational Biology, 2012 Differences between individual human genomes, or between human and cancer genomes, range in scale from single nucleotide variants (SNVs) through intermediate and large-scale duplications, deletions, and rearrangements of genomic segments. The latter class, called structural variants (SVs), have received considerable attention in the past several years ...
openaire +4 more sources
Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control
FEBS Open Bio, EarlyView.Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada +5 more
wiley +1 more source
Comparison of structural variant callers for massive whole-genome sequence data
BMC GenomicsBackground Detecting structural variations (SVs) at the population level using next-generation sequencing (NGS) requires substantial computational resources and processing time.
Soobok Joe +8 more
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Applications of advanced technologies for detecting genomic structural variation. [PDF]
Mutat Res Rev Mutat Res, 2023 Laufer VA, Glover TW, Wilson TE.
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FEBS Open Bio, EarlyView.ERα splice variant ERα∆7 lacks the C‐terminus, and its expression may change phenotypes of breast cancers. Our results showed that ERα∆7 is found in the luminal A subtype, and elevated ERα∆7 levels are linked to improved cell survival with lower proliferation and migration.
Long Wai Tsui +10 more
wiley +1 more source
Genomic structural variation: A complex but important driver of human evolution. [PDF]
Am J Biol Anthropol, 2023 Soto DC +5 more
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Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
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Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron +5 more
wiley +1 more source
Evidence for Paternal Mitochondrial DNA Leakage in Diploid Hybrid Fish Lineages
AnimalsDistant hybridization induces genomic instability in offspring, driving the occurrence of gene recombination and mutation. Analysis of the genomic genetic composition can be used to infer the genetic evolutionary relationships between species.
Yalan Zhang +13 more
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Introgression of a Complex Genomic Structural Variation Causes Hybrid Male Sterility in GJ Rice (Oryza sativa L.) Subspecies. [PDF]
Int J Mol Sci, 2022 Xu N, Xu H, Xu Z, Li F, Xu Q.
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