Structural variation (original) (raw)
結構變異（Structural variation），又稱為基因體結構變異，是生物染色體上結構的變異，由一個物種基因體中的多種變異所組成，通常包括微觀和亞微觀類型，如缺失、重覆、、插入、倒位和易位等。過去討論結構變異，多指涉長度介於1Kb與3Mb之間的序列，大於單核苷酸多態性並且小於染色體畸變（雖然就定義上有一些重叠），但隨著全基因組測序技術的發達，現在結構變異的定義已擴大為大於50b的序列。結構變異不一定會影響表現型，有些結構變異與遺傳疾病有關，但也有許多與其無關。近期有關結構變異的研究發現結構變異比單核苷酸多態性更難檢測。正常人群的基因組中，約有13%的區域為結構變異，而且至少有240個基因有同型合子缺失的情形，意味著這些基因可能在人類是非必需的。每個人的基因組中，可能多達數百萬個核苷酸為結構變異，可能對人類多樣性與疾病易感受性有重要影響。
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| dbo:abstract | Genomic structural variation is the variation in structure of an organism's chromosome. It consists of many kinds of variation in the genome of one species, and usually includes microscopic and types, such as deletions, duplications, copy-number variants, insertions, inversions and translocations. Originally, a structure variation affects a sequence length about 1kb to 3Mb, which is larger than SNPs and smaller than chromosome abnormality (though the definitions have some overlap). However, the operational range of structural variants has widened to include events > 50bp. The definition of structural variation does not imply anything about frequency or phenotypical effects. Many structural variants are associated with genetic diseases, however many are not. Recent research about SVs indicates that SVs are more difficult to detect than SNPs. Approximately 13% of the human genome is defined as structurally variant in the normal population, and there are at least 240 genes that exist as homozygous deletion polymorphisms in human populations, suggesting these genes are dispensable in humans. Rapidly accumulating evidence indicates that structural variations can comprise millions of nucleotides of heterogeneity within every genome, and are likely to make an important contribution to human diversity and disease susceptibility. (en) Variação estrutural (ou variação estrutural genômica) é o conjunto de variações envolvendo, pelo menos, centenas de pares de bases no cromossomo de organismo e também quando a modificação das regras provocam alterações no esporte e em consequência disso surge uma nova modalidade esportiva. O termo variação estrutural agrupa os diversos tipos de variações que, em geral, subdividem-se em variações estruturais microscópicas, aquelas que podem ser observadas por microscópio e submicroscópias, que envolvem apenas centenas a milhões de pares de bases. Variações estruturais submicroscópias podem ser subdividas em Inserções, Deleções, Inversões e Translocações Variações estruturais são frequentemente vistas em indivíduos normais e assim como SNPs são majoritariamente neutras. No entanto, diversas patologias foram associadas com variações estruturais, por exemplo, a Síndrome de Down consiste um uma variação estrutural microscópica da trissomia do cromossomo 21 e a Hemofilia A tem 40% de seus casos associados a uma variação estrutural submicroscópica associada a inversão no gene IDS. (pt) 結構變異（Structural variation），又稱為基因體結構變異，是生物染色體上結構的變異，由一個物種基因體中的多種變異所組成，通常包括微觀和亞微觀類型，如缺失、重覆、、插入、倒位和易位等。過去討論結構變異，多指涉長度介於1Kb與3Mb之間的序列，大於單核苷酸多態性並且小於染色體畸變（雖然就定義上有一些重叠），但隨著全基因組測序技術的發達，現在結構變異的定義已擴大為大於50b的序列。結構變異不一定會影響表現型，有些結構變異與遺傳疾病有關，但也有許多與其無關。近期有關結構變異的研究發現結構變異比單核苷酸多態性更難檢測。正常人群的基因組中，約有13%的區域為結構變異，而且至少有240個基因有同型合子缺失的情形，意味著這些基因可能在人類是非必需的。每個人的基因組中，可能多達數百萬個核苷酸為結構變異，可能對人類多樣性與疾病易感受性有重要影響。 (zh) |
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| rdfs:comment | 結構變異（Structural variation），又稱為基因體結構變異，是生物染色體上結構的變異，由一個物種基因體中的多種變異所組成，通常包括微觀和亞微觀類型，如缺失、重覆、、插入、倒位和易位等。過去討論結構變異，多指涉長度介於1Kb與3Mb之間的序列，大於單核苷酸多態性並且小於染色體畸變（雖然就定義上有一些重叠），但隨著全基因組測序技術的發達，現在結構變異的定義已擴大為大於50b的序列。結構變異不一定會影響表現型，有些結構變異與遺傳疾病有關，但也有許多與其無關。近期有關結構變異的研究發現結構變異比單核苷酸多態性更難檢測。正常人群的基因組中，約有13%的區域為結構變異，而且至少有240個基因有同型合子缺失的情形，意味著這些基因可能在人類是非必需的。每個人的基因組中，可能多達數百萬個核苷酸為結構變異，可能對人類多樣性與疾病易感受性有重要影響。 (zh) Genomic structural variation is the variation in structure of an organism's chromosome. It consists of many kinds of variation in the genome of one species, and usually includes microscopic and types, such as deletions, duplications, copy-number variants, insertions, inversions and translocations. Originally, a structure variation affects a sequence length about 1kb to 3Mb, which is larger than SNPs and smaller than chromosome abnormality (though the definitions have some overlap). However, the operational range of structural variants has widened to include events > 50bp. The definition of structural variation does not imply anything about frequency or phenotypical effects. Many structural variants are associated with genetic diseases, however many are not. Recent research about SVs indic (en) Variação estrutural (ou variação estrutural genômica) é o conjunto de variações envolvendo, pelo menos, centenas de pares de bases no cromossomo de organismo e também quando a modificação das regras provocam alterações no esporte e em consequência disso surge uma nova modalidade esportiva. O termo variação estrutural agrupa os diversos tipos de variações que, em geral, subdividem-se em variações estruturais microscópicas, aquelas que podem ser observadas por microscópio e submicroscópias, que envolvem apenas centenas a milhões de pares de bases. Variações estruturais submicroscópias podem ser subdividas em Inserções, Deleções, Inversões e Translocações (pt) |
| rdfs:label | Variação estrutural (pt) Structural variation (en) 結構變異 (zh) |
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