Evidence map›Paper›PMID 26320892›Full record

ArticleAmerican journal of human genetics2015

Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation.

Richard Howey, Chrysovalanto Mamasoula, Ana Töpf, Ron Nudel, Judith A Goodship, Bernard D Keavney, Heather J Cordell

Abstract read
In one paragraph

Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Maternal-fetal genetic interactions, imprinting, and risk of placental abruption.The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians · 2022
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. 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

7 authors.

Richard HoweyInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
Chrysovalanto MamasoulaInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK; Institute of Health and Society, Newcastle University, Newcastle upon Tyne, NE2 4AX, UK.
Ana TöpfInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
Ron NudelWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.
Judith A GoodshipInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
Bernard D KeavneyInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK; Institute of Cardiovascular Sciences, University of Manchester, Manchester, M13 9NT, UK.
Heather J CordellInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK. Electronic address: heather.cordell@ncl.ac.uk.

Funding

British Heart FoundationMedical Research Council G1000569Medical Research Council G1000569/1Medical Research Council MR/J003719/1Wellcome Trust 085475Wellcome Trust 087436Wellcome Trust 087436/Z/08/ZWellcome Trust 102858/Z/13/Z
6 · The paper itself

Abstract

Parent-of-origin (or imprinting) effects relate to the situation in which traits are influenced by the allele inherited from only one parent and the allele from the other parent has little or no effect. Given SNP genotype data from case-parent trios, the parent of origin of each allele in the offspring can often be deduced unambiguously; however, this is not true when all three individuals are heterozygous. Most existing methods for investigating parent-of-origin effects operate on a SNP-by-SNP basis and either perform some sort of averaging over the possible parental transmissions or else discard ambiguous trios. If the correct parent of origin at a SNP could be determined, this would provide extra information and increase the power for detecting the effects of imprinting. We propose making use of the surrounding SNP information, via haplotype estimation, to improve estimation of parent of origin at a test SNP for case-parent trios, case-mother duos, and case-father duos. This extra information is then used in a multinomial modeling approach for estimating parent-of-origin effects at the test SNP. We show through computer simulations that our approach has increased power over previous approaches, particularly when the data consist only of duos. We apply our method to two real datasets and find a decrease in significance of p values in genomic regions previously thought to possibly harbor imprinting effects, thus weakening the evidence that such effects actually exist in these regions, although some regions retain evidence of significant effects.

Indexed as

Models, GeneticComputer SimulationGenomic ImprintingGenotypeHaplotypesHumansLikelihood FunctionsPolymorphism, Single Nucleotide

Identifiers

PMID26320892
PMCPMC4564992

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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.