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
人类基因组结构变异Genomic structural variation is generally defined as deletions, insertions, duplications, inversions, transloca-tions or copy number variation (CNV) in large DNA segments (>1 kb). The structural variation in an individual genome includes thousands of discrete regions, spans millions ...
SCRaMbLE allows investigating how structural variation can lead to phenotypic changes. One way to do this will be to grow pools of variants in different stressful environments. Variants showing improved fitness can easily be enriched by prolonged exposure to the stress, and long-read whole-genome se...
Inversions: A segment of DNA that is reversed in orientation with respect to the rest of the chromosome. Pericentric inversions include the centromere (着丝粒), whereas paracentric inversions do not. Translocation: A change in position of a chromosomal segment within a genome that involves no chang...
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]...
Genome-Wide Identification and Expression Analysis of the Copper Transporter (COPT / Ctr) Gene Family in Kandelia obovata , a Typical Mangrove Plant The domain and 3D structural variation, phylogenetic tree, chromosomal distributions, gene structure, motif analysis, subcellular localization, cis-regulatory...
Kerstens HHD, Crooijmans RPMA, Dibbits BW, Vereijken A, Okimoto R, Groenen MAM. Structural variation in the chicken genome identified by paired-end next-generation DNA sequencing of reduced representation libraries . BMC genomics . 2011; 12 doi: 10.1186/1471-2164-12-94...
Such variants are easily visualized, relatively straightforward to detect, and have driven many successful studies of the associations between genomic variation and human disease [1-3]. Larger variants, however, account for a greater number of variable bases in the genome, with up to 13% of the...
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......
“The present work identifies upper (4.5%) and lower (1.8%) estimates of the extent of structural variation in a personal genome and characterizes the impact of various resequencing methods,” they write. They also note that “as with [single nucleotide variants], many [structural variants] in...