Evidence map›Paper›PMID 15489534›Full record

ArticleGenetics2005

Coalescent-based association mapping and fine mapping of complex trait loci.

Sebastian Zöllner, Jonathan K Pritchard

Open access · bronzeAbstract readComparative Study
In one paragraph

Article in Genetics, 2005. 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
5.0field-weighted citation impact, top 4% 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, 130 citations in OpenAlex.

  1. Article
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  6. Tree-based QTL mapping with expected local genetic relatedness matrices.bioRxiv : the preprint server for biology · 2023
    Article
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  13. New Genetic Approaches to AD: Lessons from APOE-TOMM40 Phylogenetics.Current neurology and neuroscience reports · 2016
    Review
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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

2 authors at 1 institution in 1 country.

Sebastian ZöllnerDepartment of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA. szoellne@genetics.uchicago.edu
Jonathan K Pritchard
University of Chicago · US

Funding

Linkage Disequilibrium Methods For Complex Trait MappingR01HG002772 · NHGRI · UNIVERSITY OF CHICAGO · PI PRITCHARD, JONATHAN K · 2003 to 2007
$1.7M
NHGRI NIH HHS HG 2772NHGRI NIH HHS R01 HG002772
6 · The paper itself

Abstract

We outline a general coalescent framework for using genotype data in linkage disequilibrium-based mapping studies. Our approach unifies two main goals of gene mapping that have generally been treated separately in the past: detecting association (i.e., significance testing) and estimating the location of the causative variation. To tackle the problem, we separate the inference into two stages. First, we use Markov chain Monte Carlo to sample from the posterior distribution of coalescent genealogies of all the sampled chromosomes without regard to phenotype. Then, averaging across genealogies, we estimate the likelihood of the phenotype data under various models for mutation and penetrance at an unobserved disease locus. The essential signal that these models look for is that in the presence of disease susceptibility variants in a region, there is nonrandom clustering of the chromosomes on the tree according to phenotype. The extent of nonrandom clustering is captured by the likelihood and can be used to construct significance tests or Bayesian posterior distributions for location. A novelty of our framework is that it can naturally accommodate quantitative data. We describe applications of the method to simulated data and to data from a Mendelian locus (CFTR, responsible for cystic fibrosis) and from a proposed complex trait locus (calpain-10, implicated in type 2 diabetes).

Indexed as

Quantitative Trait, HeritableAllelesBayes TheoremCalpainChromosome MappingComputer SimulationCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorDiabetes Mellitus, Type 2Disease SusceptibilityGenetic VariationHaplotypesHumansLikelihood FunctionsLinkage DisequilibriumMarkov ChainsCalpaincalpain 10CFTR protein, humanCystic Fibrosis Transmembrane Conductance Regulator

Identifiers

PMID15489534
PMCPMC1449137
OpenAlexW1990059547

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.