Towards a comprehensive structural variation map of an individual human genome
about
Human genetics and genomics a decade after the release of the draft sequence of the human genomeUsing ERDS to infer copy-number variants in high-coverage genomesMapping copy number variation by population-scale genome sequencingClinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsCopy number variation in the horse genomeThe Genetic Basis of Coronary Artery Disease and Atrial Fibrillation: A Search for Disease Mechanisms and Therapeutic TargetsDetection of Genomic Structural Variants from Next-Generation Sequencing DataA copy number variation map of the human genomeComprehensive assessment of array-based platforms and calling algorithms for detection of copy number variantsCharacterizing complex structural variation in germline and somatic genomesIncreased de novo copy number variants in the offspring of older malesModeling read counts for CNV detection in exome sequencing data.Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2Biological relevance of CNV calling methods using familial relatedness including monozygotic twins.EXCAVATOR: detecting copy number variants from whole-exome sequencing dataAbsence/presence calling in microarray-based CGH experiments with non-model organismsHuman PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene.Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions.A comprehensive map of mobile element insertion polymorphisms in humansESRRA-C11orf20 is a recurrent gene fusion in serous ovarian carcinoma.Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping.Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms.Genetic association studies of copy-number variation: should assignment of copy number states precede testing?Comparison of the transcriptional profiles of head and body lice.Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up.Phenotypic impact of genomic structural variation: insights from and for human disease.Copy number variation in subjects with major depressive disorder who attempted suicide.Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.Characteristics of de novo structural changes in the human genome.An integrated map of structural variation in 2,504 human genomes.The human gut mobile metagenome: a metazoan perspective.Widespread divergence of the CEACAM/PSG genes in vertebrates and humans suggests sensitivity to selectionOn the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing.Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencingGenome-wide association tests of inversions with application to psoriasis.Detecting Alu insertions from high-throughput sequencing data.Genomic and transcriptomic differences in community acquired methicillin resistant Staphylococcus aureus USA300 and USA400 strains.Recent findings in the genetics of blood pressure and hypertension traits.Genome wide analysis reveals single nucleotide polymorphisms associated with fatness and putative novel copy number variants in three pig breeds.Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite
P2860
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P2860
Towards a comprehensive structural variation map of an individual human genome
description
2010 nî lūn-bûn
@nan
2010 թուականին հրատարակուած գիտական յօդուած
@hyw
2010 թվականին 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
Towards a comprehensive structural variation map of an individual human genome
@ast
Towards a comprehensive structural variation map of an individual human genome
@en
Towards a comprehensive structural variation map of an individual human genome
@en-gb
Towards a comprehensive structural variation map of an individual human genome
@nl
type
label
Towards a comprehensive structural variation map of an individual human genome
@ast
Towards a comprehensive structural variation map of an individual human genome
@en
Towards a comprehensive structural variation map of an individual human genome
@en-gb
Towards a comprehensive structural variation map of an individual human genome
@nl
prefLabel
Towards a comprehensive structural variation map of an individual human genome
@ast
Towards a comprehensive structural variation map of an individual human genome
@en
Towards a comprehensive structural variation map of an individual human genome
@en-gb
Towards a comprehensive structural variation map of an individual human genome
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Towards a comprehensive structural variation map of an individual human genome
@en
P2093
Andy W Pang
Charles Lee
Donald F Conrad
Ewen F Kirkness
Hansoo Park
Matthew E Hurles
Muhammad A Rafiq
Samuel Levy
P2860
P2888
P3181
P356
10.1186/GB-2010-11-5-R52
P407
P577
2010-01-01T00:00:00Z
P5875
P6179
1019315498