Identification of copy number variation hotspots in human populations.
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Exploring the role of copy number variants in human adaptationMultiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with AutismDrosophila duplication hotspots are associated with late-replicating regions of the genomeWidespread divergence of the CEACAM/PSG genes in vertebrates and humans suggests sensitivity to selectionDetecting negative selection on recurrent mutations using gene genealogyGenome architecture and its roles in human copy number variation.Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expressionOn the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.Analysis of Arabidopsis genome-wide variations before and after meiosis and meiotic recombination by resequencing Landsberg erecta and all four products of a single meiosisEvolutionary history of copy-number-variable locus for the low-affinity Fcγ receptor: mutation rate, autoimmune disease, and the legacy of helminth infection.Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanismsHigh mutation rates explain low population genetic divergence at copy-number-variable loci in Homo sapiensHuman gene copy number variation and infectious disease.Conserved and quickly evolving immunome genes have different evolutionary paths.Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization.Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome.Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screensAssociation of Copy Number Variations in Autism Spectrum Disorders: A Systematic Review
P2860
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P2860
Identification of copy number variation hotspots in human populations.
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Identification of copy number variation hotspots in human populations.
@ast
Identification of copy number variation hotspots in human populations.
@en
Identification of copy number variation hotspots in human populations.
@nl
type
label
Identification of copy number variation hotspots in human populations.
@ast
Identification of copy number variation hotspots in human populations.
@en
Identification of copy number variation hotspots in human populations.
@nl
prefLabel
Identification of copy number variation hotspots in human populations.
@ast
Identification of copy number variation hotspots in human populations.
@en
Identification of copy number variation hotspots in human populations.
@nl
P2093
P2860
P1476
Identification of copy number variation hotspots in human populations.
@en
P2093
P2860
P304
P356
10.1016/J.AJHG.2010.09.006
P407
P50
P577
2010-10-01T00:00:00Z