Evidence map›Paper›PMID 15943883›Full record

ArticleBMC genetics2005

Estimating haplotype frequencies in pooled DNA samples when there is genotyping error.

Shannon R E Quade, Robert C Elston, Katrina A B Goddard

Abstract read
In one paragraph

Article in BMC genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. A survey on haplotyping algorithms for tightly linked markers.Journal of bioinformatics and computational biology · 2008
    Article
  6. 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.

Shannon R E QuadeDepartment of Epidemiology and Biostatistics, Case Western Reserve University, 2103 Cornell Rd, Cleveland, Ohio 44106-7281, USA. sedwards@darwin.cwru.edu
Robert C Elston
Katrina A B Goddard

Funding

X-LINKED EXTENSION OF THE REVISED HASEMAN-ELSTON ALGORITHM FOR LINKAGE ANALYSISP41RR003655 · NCRR · LOUISIANA STATE UNIV HSC NEW ORLEANS · PI ELSTON, ROBERT C. · 1987 to 2011
$11.5M
Robust Linkage Methods for Human Pedigree DataR01HG001577 · NHGRI · CASE WESTERN RESERVE UNIVERSITY · PI GODDARD, KATRINA A · 2001 to 2004
$758k
ROBUST LINKAGE METHODS FOR HUMAN PEDIGREE DATAR29HG001577 · NHGRI · CASE WESTERN RESERVE UNIVERSITY · PI OLSON, JANE M. · 1996 to 2000
$101k
NCRR NIH HHS P41 RR003655NCRR NIH HHS RR03655NHGRI NIH HHS HG01577NHGRI NIH HHS R01 HG001577NHGRI NIH HHS R29 HG001577NIGMS NIH HHS GM2835
6 · The paper itself

Abstract

backgroundMaximum likelihood estimates of haplotype frequencies can be obtained from pooled DNA using the expectation maximization (EM) algorithm. Through simulation, we investigate the effect of genotyping error on the accuracy of haplotype frequency estimates obtained using this algorithm. We explore model parameters including allele frequency, inter-marker linkage disequilibrium (LD), genotyping error rate, and pool size.

resultsPool sizes of 2, 5, and 10 individuals achieved comparable levels of accuracy in the estimation procedure. Common marker allele frequencies and no inter-marker LD result in less accurate estimates. This pattern is observed regardless of the amount of genotyping error simulated.

conclusionGenotyping error slightly decreases the accuracy of haplotype frequency estimates. However, the EM algorithm performs well even in the presence of genotyping error. Overall, pools of 2, 5, and 10 individuals yield similar accuracy of the haplotype frequency estimates, while reducing costs due to genotyping.

Indexed as

Diagnostic ErrorsGene FrequencyHaplotypesDNAGenotypeHumansLikelihood FunctionsSample SizeDNA

Identifiers

PMID15943883
PMCPMC1156884

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Registered trials

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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.