Evidence map›Paper›PMID 18562465›Full record

ArticleNucleic acids research2008

Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping.

Daniel J Turner, Chris Tyler-Smith, Matthew E Hurles

Open access · goldAbstract readEvaluation Study
In one paragraph

Article in Nucleic acids research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.6field-weighted citation impact, top 32% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Human inversions and their functional consequences.Briefings in functional genomics · 2015
    Review
  6. Article
  7. Article
  8. Article
  9. Completely phased genome sequencing through chromosome sorting.Proceedings of the National Academy of Sciences of the United States of America · 2011
    Article
  10. The human Major Histocompatibility Complex as a paradigm in genomics research.Briefings in functional genomics & proteomics · 2009
    Review
  11. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Daniel J TurnerWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK. djt@sanger.ac.uk
Chris Tyler-Smith
Matthew E Hurles
Wellcome Sanger Institute · GB

Funding

Wellcome Trust
6 · The paper itself

Abstract

Ligation Haplotyping is a robust, novel method for experimental determination of haplotypes over long distances, which can be applied to assaying both sequence and structural variation. The simplicity and efficacy of the method for genotyping large chromosomal rearrangements and haplotyping SNPs over long distances make it a valuable and powerful addition to the methodological repertoire, which will be beneficial to studies of population genetics and evolution, disease association and inheritance, and genomic variation. We illustrate the versatility of the method both by genotyping a Yp paracentric inversion, found in approximately 60% of Northwest European males, that strongly influences the germline rate of infertility-causing XY translocations and by haplotyping two autosomal SNPs that lie 16.4 kb apart on chromosome 7, and which influence an individual's susceptibility to systemic lupus erythematosus.

Indexed as

Chromosome InversionHaplotypesPolymorphism, Single NucleotideDNA LigasesHumansInterferon Regulatory FactorsMalePolymerase Chain ReactionDNA LigasesInterferon Regulatory FactorsIRF5 protein, human

Identifiers

PMID18562465
PMCPMC2490767
OpenAlexW2162761556

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.