ArticleHuman genomics2004
A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture.
Article in Human genomics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
48 citing papers in PubMed.
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- Genome-Wide Analysis and Expression Profiling of Lectin Receptor-like Kinase Genes in Watermelon (International journal of molecular sciences · 2024Article
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- Genome-Wide Analysis ofInternational journal of molecular sciences · 2024Article
- Insights into ZmWAKL in maize kernel development: genome-wide investigation and GA-mediated transcription.BMC genomics · 2023Article
- Gene Structural Specificity and Expression ofInternational journal of molecular sciences · 2023Article
- Identification and characteristics of SnRK genes and cold stress-induced expression profiles in Liriodendron chinense.BMC genomics · 2022Article
- Molecular characterization of SUT Gene Family in Solanaceae with emphasis on expression analysis of pepper genes during development and stresses.Bioengineered · 2022Article
- Genome-wide identification, evolutionary and expression analyses of LEA gene family in peanut (Arachis hypogaea L.).BMC plant biology · 2022Article
- Genome-wide identification of Tomato Golden 2-Like transcription factors and abiotic stress related members screening.BMC plant biology · 2022Article
- Comparative genomic analysis of expansin superfamily gene members in zucchini and cucumber and their expression profiles under different abiotic stresses.Physiology and molecular biology of plants : an international journal of functional plant biology · 2021Article
- Genome-wide identification and expression analysis of the bHLH transcription factor family and its response to abiotic stress in foxtail millet (Setaria italica L.).BMC genomics · 2021Article
- Genome-wide identification, classification, and expression analysis of the JmjC domain-containing histone demethylase gene family in birch.BMC genomics · 2021Article
- Genome-wide identification and expression analysis of the bHLH transcription factor family and its response to abiotic stress in sorghum [Sorghum bicolor (L.) Moench].BMC genomics · 2021Article
- Genome-wide identification and expression pattern analysis of the ribonuclease T2 family in Eucommia ulmoides.Scientific reports · 2021Article
- Genome-Wide Identification and Co-Expression Analysis ofFrontiers in genetics · 2021Article
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3 authors.
Funding
Abstract
Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-order structures predisposing to such common variations in genomic architecture. Segmental duplications (SDs) constitute up to 5 per cent of the genome and play an important role in generating additional rearrangements and in disease aetiology. We conducted a genome-wide database search for a form of SD, palindromic segmental duplications (PSDs), which consist of paired, inverted duplications, and which predispose to inversions, duplications and deletions. The survey was complemented by a search for SDs in tandem orientation (TSDs) that can mediate duplications and deletions but not inversions. We found more than 230 distinct loci with higher-order genomic structure that can mediate genomic variation, of these about 180 contained a PSD. A number of these sites were previously identified as harbouring common inversions or as being associated with specific genomic diseases characterised by duplication, deletions or inversions. Most of the regions, however, were previously unidentified; their characterisation should identify further common rearrangements and may indicate localisations for additional genomic disorders. The widespread distribution of complex chromosomal architecture suggests a potentially high degree of plasticity of the human genome and could uncover another level of genetic variation within human populations.
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