An assessment of the sequence gaps: unfinished business in a finished human genome.
about
Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequenceResolving the complexity of the human genome using single-molecule sequencingMutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysisSegmental duplications and copy-number variation in the human genome.A novel gene family NBPF: intricate structure generated by gene duplications during primate evolutionHIV infection reveals widespread expansion of novel centromeric human endogenous retrovirusesSequence and expression analysis of gaps in human chromosome 20Genome-wide characterization of centromeric satellites from multiple mammalian genomesSplicing and alternative splicing in rice and humans.DNA Data Visualization (DDV): Software for Generating Web-Based Interfaces Supporting Navigation and Analysis of DNA Sequence Data of Entire GenomesComplete Sequence Construction of the Highly Repetitive Ribosomal RNA Gene Repeats in Eukaryotes Using Whole Genome Sequence Data.Rapid Evolutionary Rates and Unique Genomic Signatures Discovered in the First Reference Genome for the Southern Ocean Salp, Salpa thompsoni (Urochordata, Thaliacea)DNPTrapper: an assembly editing tool for finishing and analysis of complex repeat regions.Large-scale polymorphism of heterochromatic repeats in the DNA of Arabidopsis thaliana.Sequence finishing and mapping of Drosophila melanogaster heterochromatinA rapidly evolving genomic toolkit for Drosophila heterochromatin.Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome.A 1.1-Mb segmental deletion on the X chromosome causes meiotic failure in male micePunctuated duplication seeding events during the evolution of human chromosome 2p11.Copy number variation in human health, disease, and evolution.Evolutionary origin of higher-order repeat structure in alpha-satellite DNA of primate centromeres.A genome-wide survey of structural variation between human and chimpanzee.Human copy number polymorphic genesA large and complex structural polymorphism at 16p12.1 underlies microdeletion disease riskTelomere fusions in early human breast carcinoma.Simple quantitative PCR approach to reveal naturally occurring and mutation-induced repetitive sequence variation on the Drosophila Y chromosome.Replication of alpha-satellite DNA arrays in endogenous human centromeric regions and in human artificial chromosomeRetrotransposon accumulation and satellite amplification mediated by segmental duplication facilitate centromere expansion in rice.Composition and organization of active centromere sequences in complex genomes.Non-B DNA structure-induced genetic instability and evolution.Primate segmental duplications: crucibles of evolution, diversity and disease.Single haplotype assembly of the human genome from a hydatidiform moleDirect visualization of the highly polymorphic RNU2 locus in proximity to the BRCA1 gene.Frequent loss of genome gap region in 4p16.3 subtelomere in early-onset type 2 diabetes mellitus.Organization and molecular evolution of CENP-A--associated satellite DNA families in a basal primate genome.Expansion of a novel endogenous retrovirus throughout the pericentromeres of modern humansEvidence for chromosome fragility at the frataxin locus in Friedreich ataxia.The macrosatellite DXZ4 mediates CTCF-dependent long-range intrachromosomal interactions on the human inactive X chromosome.TAR cloning: insights into gene function, long-range haplotypes and genome structure and evolution.Utilizing mapping targets of sequences underrepresented in the reference assembly to reduce false positive alignments
P2860
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P2860
An assessment of the sequence gaps: unfinished business in a finished human genome.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
An assessment of the sequence gaps: unfinished business in a finished human genome.
@ast
An assessment of the sequence gaps: unfinished business in a finished human genome.
@en
type
label
An assessment of the sequence gaps: unfinished business in a finished human genome.
@ast
An assessment of the sequence gaps: unfinished business in a finished human genome.
@en
prefLabel
An assessment of the sequence gaps: unfinished business in a finished human genome.
@ast
An assessment of the sequence gaps: unfinished business in a finished human genome.
@en
P2093
P2860
P356
P1476
An assessment of the sequence gaps: unfinished business in a finished human genome.
@en
P2093
Evan E Eichler
Royden A Clark
Xinwei She
P2860
P2888
P304
P356
10.1038/NRG1322
P577
2004-05-01T00:00:00Z
P5875
P6179
1041919822