Inversion variants in the human genome: role in disease and genome architecture
about
Human genetics and genomics a decade after the release of the draft sequence of the human genomeFollowing the footprints of polymorphic inversions on SNP data: from detection to association tests.High rates of de novo 15q11q13 inversions in human spermatozoa.Investigation of inversion polymorphisms in the human genome using principal components analysisA 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplicationsOn the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing.Genome-wide association tests of inversions with application to psoriasis.Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.Identifying micro-inversions using high-throughput sequencing readsThe origin, global distribution, and functional impact of the human 8p23 inversion polymorphism.Human inversions and their functional consequencesSingle-cell template strand sequencing by Strand-seq enables the characterization of individual homologs.On the structural plasticity of the human genome: chromosomal inversions revisited.Characterizing polymorphic inversions in human genomes by single-cell sequencing.InvFEST, a database integrating information of polymorphic inversions in the human genome.The discovery of human genetic variations and their use as disease markers: past, present and future.Recent advances in targeted genome engineering in mammalian systems.Statistical challenges associated with detecting copy number variations with next-generation sequencing.Making the difference: integrating structural variation detection tools.A decade of structural variants: description, history and methods to detect structural variation.Directional genomic hybridization for chromosomal inversion discovery and detection.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Exome sequencing and whole genome sequencing for the detection of copy number variation.Chromosomal polymorphism in mammals: an evolutionary perspective.Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.Nutrigenomics and inflammatory bowel diseases.The Effect of Common Inversion Polymorphisms In(2L)t and In(3R)Mo on Patterns of Transcriptional Variation in Drosophila melanogaster.
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P2860
Inversion variants in the human genome: role in disease and genome architecture
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին 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
Inversion variants in the human genome: role in disease and genome architecture
@ast
Inversion variants in the human genome: role in disease and genome architecture
@en
type
label
Inversion variants in the human genome: role in disease and genome architecture
@ast
Inversion variants in the human genome: role in disease and genome architecture
@en
prefLabel
Inversion variants in the human genome: role in disease and genome architecture
@ast
Inversion variants in the human genome: role in disease and genome architecture
@en
P2860
P356
P1433
P1476
Inversion variants in the human genome: role in disease and genome architecture
@en
P2093
P2860
P2888
P356
10.1186/GM132
P577
2010-02-12T00:00:00Z
P5875
P6179
1047997728