Assaying chromosomal inversions by single-molecule haplotyping

scientific article published on June 2006

Assaying chromosomal inversions by single-molecule haplotyping is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/NMETH881
P932PMC publication ID2690135
P698PubMed publication ID16721377
P5875ResearchGate publication ID7062048

P50authorGeorge M. ChurchQ3298995
Jay ShendureQ15989781
Chris Tyler-SmithQ28037359
P2093author name stringMatthew E Hurles
Daniel J Turner
Peter Green
Greg Porreca
P2860cites workThe DNA sequence of the human X chromosomeQ21735931
Fine-scale structural variation of the human genomeQ22122044
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplificationQ24530153
Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variationsQ24678861
Molecular haplotyping by linking emulsion PCR: analysis of paraoxonase 1 haplotypes and phenotypesQ24800947
Hotspots of homologous recombination in the human genome: not all homologous sequences are equalQ24809343
Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assembliesQ24811003
Detection of large-scale variation in the human genomeQ28131803
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classesQ28180324
Segmental duplications and copy-number variation in the human genomeQ28253048
Accurate multiplex polony sequencing of an evolved bacterial genomeQ28265850
Large-scale copy number polymorphism in the human genomeQ28273726
Genome architecture, rearrangements and genomic disordersQ29614721
A common inversion under selection in EuropeansQ29614908
Digital genotyping and haplotyping with polymerase coloniesQ31141262
In situ localized amplification and contact replication of many individual DNA moleculesQ33179199
Isolation of the human sex determining region from a Y-enriched yeast artificial chromosome libraryQ33298179
Molecular mechanisms for constitutional chromosomal rearrangements in humansQ33926237
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.Q33930829
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative methodQ33965225
Isolation of single-copy human genes from a library of yeast artificial chromosome clonesQ34450414
A selective difference between human Y-chromosomal DNA haplotypesQ34487641
The detection of large deletions or duplications in genomic DNA.Q34981301
Directed evolution of polymerase function by compartmentalized self-replicationQ35272411
A first-generation physical map of the human genomeQ36757666
Structure of the sequences adjacent to the centromeric alphoid satellite DNA array on the human Y chromosomeQ36781192
Segmental duplications: organization and impact within the current human genome project assemblyQ40415164
Precise gene fusion by PCR.Q40450905
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.Q45868290
Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cellsQ45871380
Polymorphism and hemophilia A causing inversions in distal Xq28: a complex pictureQ45887888
Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia AQ45888734
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeatsQ48050604
Report of the Third International Workshop on Y Chromosome Mapping 1997. Heidelberg, Germany, April 13-16, 1997.Q55067448
Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type IIQ77510799
Shotgun sequence assembly and recent segmental duplications within the human genomeQ80890037
P433issue6
P304page(s)439-445
P577publication date2006-06-01
P1433published inNature MethodsQ680640
P1476titleAssaying chromosomal inversions by single-molecule haplotyping
P478volume3

Reverse relations

cites work (P2860)
Q37383344Characterizing polymorphic inversions in human genomes by single-cell sequencing.
Q47361014Copy number variation arising from gene conversion on the human Y chromosome
Q28710007Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR
Q36245764Discovery of large genomic inversions using long range information
Q31087752Evidence for large inversion polymorphisms in the human genome from HapMap data
Q37149910From cytogenetics to next-generation sequencing technologies: advances in the detection of genome rearrangements in tumors
Q34797959Genome-wide association tests of inversions with application to psoriasis
Q38463068Haplotype-resolved genome sequencing: experimental methods and applications
Q40597822High-throughput haplotype determination over long distances by haplotype fusion PCR and ligation haplotyping
Q36077972Human inversions and their functional consequences
Q37662023InvFEST, a database integrating information of polymorphic inversions in the human genome
Q33762256Inversion variants in the human genome: role in disease and genome architecture
Q41175706Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping
Q36382344On the structural plasticity of the human genome: chromosomal inversions revisited
Q91637858Opposite Expression Patterns of Spry3 and p75NTR in Cerebellar Vermis Suggest a Male-Specific Mechanism of Autism Pathogenesis
Q54600145Revealing the hidden structure of our genome
Q33847296The functional impact of structural variation in humans
Q28752151The population genetics of structural variation
Q35126612Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.

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