The structural variation in an individual genome includes thousands of discrete regions, spans millions of base pairs, and encompasses numerous entire genes and their regu-latory regions. This results in missing or change of gene functions, and subsequently leads to phenotypic changes, disease ...
a那我们就先去观光鸟巢吧 Then we on go sightseeing first the bird nest[translate] a纠纷事宜 Dispute matters concerned[translate] aStructural Variation in the Human Genome and its Role in Disease 在人的染色体上的结构变化和它的在疾病的角色[translate]...
Copy-number polymorphism: A CNV that occurs inmore than 1%of the population. Originally, this definition was used to refer to all CNVs Segmental duplication or low-copy repeat: A segment of DNA >1 kb in size that occurs in two or more copies per haploid genome, with the different copies ...
Structural and quantitative chromosomal rearrangements, collectively referred to as structural variation (SV), contribute to a large extent to the genetic diversity of the human genome and thus are of high relevance for cancer genetics, rare diseases and
A map of human genome variation from population-scale sequencing. Nature 467, 1061–1073 (2010) Conrad, D. F. et al. Origins and functional impact of copy number variation in the human genome. Nature 464, 704–712 (2010) Article CAS Google Scholar Kidd, J. M. et al. A human ...
Structural variation in the human genome The article presents an editorial that discusses structural variations in the human genome. The author states that the detection of variations in copy number in the human genome will change the way the causes of human genetic diseases ar......
Origins and functional impact of copy number variation in the human genome. Nature. 2010;464:704–12. Article CAS PubMed Central PubMed Google Scholar Stankiewicz P, Lupski JR. Structural Variation in the Human Genome and its Role in Disease. Annu Rev Med. 2010;61:437–55. Article CAS ...
Over the past decade, the Database of Genomic Variants (DGV; http://dgv.tcag.ca/) has provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) found in the genomes of control individuals from worldwide populations. Here, we describe updates and new features,...
Genome structural variation in human evolution 2022, Trends in Genetics Citation Excerpt : SIGLEC5 and SIGLEC14 are paired receptors that show similar substrate specificity yet cause opposite responses, with SIGLEC5 being inhibitory and SIGLEC14 being activatory. In the Mbuti population of the Democr...
In the past decade, large-scale DNA sequencing efforts such as the 1000 Genomes Project and the human haplotype map (HapMap) project have provided unprecedented insights into the pattern of DNA sequence variation in the human genome [1-3]. Both single nucleotide variants and submicroscopic chromos...