Assaying chromosomal inversions by single-molecule haplotyping (Q37211605)

19 August 2017

Assaying chromosomal inversions by single-molecule haplotyping (English)

1 reference

19 August 2017

2

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19 August 2017

6

Chris Tyler-Smith

1 reference

19 August 2017

George Church

4

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author name string

Daniel J Turner

1

1 reference

19 August 2017

Greg Porreca

3

1 reference

19 August 2017

Peter Green

5

1 reference

19 August 2017

Matthew E Hurles

7

1 reference

19 August 2017

1 June 2006

1 reference

19 August 2017

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19 August 2017

3

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19 August 2017

439-445

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19 August 2017

6

1 reference

https://scigraph.springernature.com/pub.10.1038/nmeth881

19 August 2017

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cites work

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Accurate multiplex polony sequencing of an evolved bacterial genome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Segmental duplications and copy-number variation in the human genome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Fine-scale structural variation of the human genome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Molecular haplotyping by linking emulsion PCR: analysis of paraoxonase 1 haplotypes and phenotypes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

The DNA sequence of the human X chromosome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

A common inversion under selection in Europeans

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Detection of large-scale variation in the human genome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Large-scale copy number polymorphism in the human genome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Digital genotyping and haplotyping with polymerase colonies

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

The detection of large deletions or duplications in genomic DNA.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Genome architecture, rearrangements and genomic disorders

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Directed evolution of polymerase function by compartmentalized self-replication

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Molecular mechanisms for constitutional chromosomal rearrangements in humans

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

In situ localized amplification and contact replication of many individual DNA molecules

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

A selective difference between human Y-chromosomal DNA haplotypes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Structure of the sequences adjacent to the centromeric alphoid satellite DNA array on the human Y chromosome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

A first-generation physical map of the human genome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Isolation of single-copy human genes from a library of yeast artificial chromosome clones

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Isolation of the human sex determining region from a Y-enriched yeast artificial chromosome library

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Segmental duplications: organization and impact within the current human genome project assembly

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Precise gene fusion by PCR.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Report of the Third International Workshop on Y Chromosome Mapping 1997. Heidelberg, Germany, April 13-16, 1997.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2690135

Shotgun sequence assembly and recent segmental duplications within the human genome

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16721377

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16721377

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NMETH881

1 reference

19 August 2017

1 reference

19 August 2017

1 reference