Evidence map›Paper›PMID 12386835›Full record

ArticleAmerican journal of human genetics2002

Haplotype inference in random population samples.

Shin Lin, David J Cutler, Michael E Zwick, Aravinda Chakravarti

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed
9.7field-weighted citation impact, top 1% 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

62 citing papers in PubMed, 183 citations in OpenAlex.

  1. Article
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  12. Observational
  13. A sequential Monte Carlo framework for haplotype inference in CNV/SNP genotype data.EURASIP journal on bioinformatics & systems biology · 2014
    Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Phasing of many thousands of genotyped samples.American journal of human genetics · 2012
    Article
  20. Article

2 more citing papers are in PubMed but not listed here.

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

4 authors at 1 institution in 1 country.

Shin LinMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
David J Cutler
Michael E Zwick
Aravinda Chakravarti
Johns Hopkins University · US

Funding

MEDICAL SCIENTIST TRAINING PROGRAMT32GM007309 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI COX, ANDREA L · 1985 to 2019
$43.2M
HUMAN GENOMIC POLYMORPHISMSR01MH060007 · NIMH · JOHNS HOPKINS UNIVERSITY · PI CHAKRAVARTI, ARAVINDA · 1998 to 2006
$4.5M
HUMAN GENOMIC SEQUENCE VARIATION--X CHROMOSOMER01HG001847 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI CHAKRAVARTI, ARAVINDA · 1998 to 2000
$725k
GENOMIC SNPS AND NATURAL SELECTIONF32HG002343 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI ZWICK, MICHAEL EDWARD · 2000 to 2002
$128k
NHGRI NIH HHS F32 HG002343NHGRI NIH HHS HG01847NIGMS NIH HHS GM07309NIGMS NIH HHS T32 GM007309NIMH NIH HHS MH60007NIMH NIH HHS R01 MH060007
6 · The paper itself

Abstract

Contemporary genotyping and sequencing methods do not provide information on linkage phase in diploid organisms. The application of statistical methods to infer and reconstruct linkage phase in samples of diploid sequences is a potentially time- and labor-saving method. The Stephens-Smith-Donnelly (SSD) algorithm is one such method, which incorporates concepts from population genetics theory in a Markov chain-Monte Carlo technique. We applied a modified SSD method, as well as the expectation-maximization and partition-ligation algorithms, to sequence data from eight loci spanning >1 Mb on the human X chromosome. We demonstrate that the accuracy of the modified SSD method is better than that of the other algorithms and is superior in terms of the number of sites that may be processed. Also, we find phase reconstructions by the modified SSD method to be highly accurate over regions with high linkage disequilibrium (LD). If only polymorphisms with a minor allele frequency >0.2 are analyzed and scored according to the fraction of neighbor relations correctly called, reconstructions are 95.2% accurate over entire 100-kb stretches and are 98.6% accurate within blocks of high LD.

Indexed as

AlgorithmsHaplotypesSoftwareChromosomes, Human, XHumansMalePolymorphism, Single Nucleotide

Identifiers

PMID12386835
PMCPMC385088
OpenAlexW2159267146

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.