High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
about
Human genetics and genomics a decade after the release of the draft sequence of the human genomeDeregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophySensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) methodAbnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cellsThe Growing Importance of CNVs: New Insights for Detection and Clinical InterpretationComprehensive assessment of array-based platforms and calling algorithms for detection of copy number variantsCopy number variants in candidate genes are genetic modifiers of Hirschsprung diseaseGenome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor.Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sampleA global analysis of CNVs in swine using whole genome sequence data and association analysis with fatty acid composition and growth traits.Analysis of copy number variations among diverse cattle breeds.Genomic characteristics of cattle copy number variations.Detection of genome-wide copy number variations in two chicken lines divergently selected for abdominal fat content.Data-driven approach to detect common copy-number variations and frequency profiles in a population-based Korean cohort.Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms.Analysis of genome-wide copy number variations in Chinese indigenous and western pig breeds by 60 K SNP genotyping arraysOne in four individuals of African-American ancestry harbors a 5.5kb deletion at chromosome 11q13.1.Genomic profiling by whole-genome single nucleotide polymorphism arrays in Wilms tumor and association with relapse.Sensorineural hearing loss in people with deletions of 18q: hearing in 18q-.Genetic association studies of copy-number variation: should assignment of copy number states precede testing?A genome-wide detection of copy number variations using SNP genotyping arrays in swine.Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype.Identification of genome-wide copy number variations among diverse pig breeds using SNP genotyping arrays.Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.Genome-wide copy number variations inferred from SNP genotyping arrays using a Large White and Minzhu intercross population.Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic herniaHaplotype phasing and inheritance of copy number variants in nuclear families.Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effectVEGAWES: variational segmentation on whole exome sequencing for copy number detectionA Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.Partial deletion of GLRB and GRIA2 in a patient with intellectual disabilityIncreased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanismsWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Enhancing genome-wide copy number variation identification by high density array CGH using diverse resources of pig breeds.tRNA gene copy number variation in humans.The clinical context of copy number variation in the human genome.Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.
P2860
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P2860
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
description
2009 nî lūn-bûn
@nan
2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
@ast
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
@en
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
@nl
type
label
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
@ast
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
@en
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
@nl
prefLabel
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
@ast
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
@en
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
@nl
P2093
P2860
P1433
P1476
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
@en
P2093
Glenn K Fu
Hajime Matsuzaki
Pei-Hua Wang
P2860
P2888
P356
10.1186/GB-2009-10-11-R125
P577
2009-11-09T00:00:00Z
P5875
P6179
1020397682