Evidence map›Paper›PMID 21811076›Full record

ArticleHuman heredity2011

PSEUDOMARKER: a powerful program for joint linkage and/or linkage disequilibrium analysis on mixtures of singletons and related individuals.

Tero Hiekkalinna, Alejandro A Schäffer, Brian Lambert, Petri Norrgrann, Harald H H Göring, Joseph D Terwilliger

Abstract read
In one paragraph

Article in Human heredity, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing 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

29 citing papers in PubMed.

  1. Article
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  7. Article
  8. Article
  9. Article
  10. Novel Risk Variants in the Oxytocin Receptor Gene (International journal of molecular sciences · 2023
    Article
  11. Familial Linkage and Association of theInternational journal of molecular sciences · 2022
    Article
  12. Comorbidity of NovelInternational journal of molecular sciences · 2022
    Article
  13. Article
  14. Article
  15. PeerJ · 2017
    Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. 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

6 authors.

Tero HiekkalinnaInstitute for Molecular Medicine Finland (FIMM), University of Helsinki. tero.hiekkalinna @ helsinki.fi
Alejandro A Schäffer
Brian Lambert
Petri Norrgrann
Harald H H Göring
Joseph D Terwilliger

Funding

Quantitative Trait Locus Mapping in Human PedigreesR37MH059490 · NIMH · TEXAS BIOMEDICAL RESEARCH INSTITUTE · PI BLANGERO, JOHN · 2001 to 2010
$6.8M
Case Studies In GeneticsZIALM000097 · NLM · NATIONAL LIBRARY OF MEDICINE · PI SCHAFFER, ALEJANDRO A · 2009 to 2019
$4.6M
EXTRAMULAR RESEARCH FACILITIES CONSTRUCTIONC06RR017515 · NCRR · SOUTHWEST FOUNDATION FOR BIOMEDICAL RES · PI SHADE, ROBERT E · 2003 to 2003
$3.1M
ANALYZE: Software for Joint Linkage and LD AnalysisR01MH063749 · NIMH · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI TERWILLIGER, JOSEPH D · 2001 to 2005
$1.7M
Inferring phenogentic mechanisms in psychiatric and other complex traitsR01MH084995 · NIMH · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI TERWILLIGER, JOSEPH DOUGLAS · 2009 to 2012
$1.6M
QUANTITATIVE TRAIT LOCUS MAPPING IN HUMAN PEDIGREESR01MH059490 · NIMH · SOUTHWEST FOUNDATION FOR BIOMEDICAL RES · PI BLANGERO, JOHN · 1998 to 2000
$426k
Intramural NIH HHSNCRR NIH HHS C06 RR017515NCRR NIH HHS RR017515NIMH NIH HHS MH059490NIMH NIH HHS MH63749NIMH NIH HHS MH84995NIMH NIH HHS R01 MH059490NIMH NIH HHS R01 MH063749NIMH NIH HHS R01 MH084995NIMH NIH HHS R37 MH059490
6 · The paper itself

Abstract

A decade ago, there was widespread enthusiasm for the prospects of genome-wide association studies to identify common variants related to common chronic diseases using samples of unrelated individuals from populations. Although technological advancements allow us to query more than a million SNPs across the genome at low cost, a disappointingly small fraction of the genetic portion of common disease etiology has been uncovered. This has led to the hypothesis that less frequent variants might be involved, stimulating a renaissance of the traditional approach of seeking genes using multiplex families from less diverse populations. However, by using the modern genotyping and sequencing technology, we can now look not just at linkage, but jointly at linkage and linkage disequilibrium (LD) in such samples. Software methods that can look simultaneously at linkage and LD in a powerful and robust manner have been lacking. Most algorithms cannot jointly analyze datasets involving families of varying structures in a statistically or computationally efficient manner. We have implemented previously proposed statistical algorithms in a user-friendly software package, PSEUDOMARKER. This paper is an announcement of this software package. We describe the motivation behind the approach, the statistical methods, and software, and we briefly demonstrate PSEUDOMARKER's advantages over other packages by example.

Indexed as

Genetic LinkageLinkage DisequilibriumCase-Control StudiesChromosome MappingGene FrequencyGenetic LociGenome-Wide Association StudyHumansLikelihood FunctionsResearch DesignSoftware

Identifiers

PMID21811076
PMCPMC3190175

What OpenQuestion holds

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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.