Evidence map›Paper›PMID 14656974›Full record

ArticleGenome research2003

Clone-based systematic haplotyping (CSH): a procedure for physical haplotyping of whole genomes.

Carola Burgtorf, Pamela Kepper, Margret Hoehe, Carsten Schmitt, Richard Reinhardt, Hans Lehrach, Sascha Sauer

Erratum issuedAbstract read
In one paragraph

Article in Genome research, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
–field-weighted citation impact
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

24 citing papers in PubMed.

  1. Article
  2. Recent Advances in Experimental Whole Genome Haplotyping Methods.International journal of molecular sciences · 2017
    Review
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Whole-genome haplotyping by dilution, amplification, and sequencing.Proceedings of the National Academy of Sciences of the United States of America · 2013
    Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
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  20. Article
4 · The record

Corrections and comments

  • Erratum issued
5 · Who and what money

Authors and funding

7 authors.

Carola BurgtorfMax-Planck-Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany. burgtorf@molgen.mpg.de
Pamela Kepper
Margret Hoehe
Carsten Schmitt
Richard Reinhardt
Hans Lehrach
Sascha Sauer

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present a novel methodology to determine the phase of single-nucleotide polymorphisms (SNPs) on a chromosome, which we term clone-based systematic haplotyping (CSH). The CSH procedure is based on separating the allelic chromosomes of a diploid genome by fosmid/cosmid cloning, and subsequent SNP typing of 96 clone pools, each representing approximately 10% of the genome. The pools are screened by PCR for the sequence of interest, followed by SNP typing on the PCR products using the GOOD assay. We demonstrate that by CSH, the haplotype of SNPs separated by more than 50 kilobases can definitely be assigned. We propose this method as being suitable for constructing maps of ancestral haplotypes, analysis of complex diseases, and for diagnosis of rare defects in which the molecular haplotype is crucial. In addition, by amplifying the initial DNA by many orders of magnitude, the original DNA resource is effectively immortalized, enabling the haplotyping of hundreds of thousands of SNPs per individual.

Indexed as

Genome, HumanHaplotypesCloning, MolecularHumansPolymorphism, Single Nucleotide

Identifiers

PMID14656974
PMCPMC403814

What OpenQuestion holds

Textmetadata
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.