Evidence map›Paper›PMID 21769932›Full record

ArticleGenetic epidemiology2011

Identity by descent estimation with dense genome-wide genotype data.

Lide Han, Mark Abney

Open access · bronzeAbstract read
In one paragraph

Article in Genetic epidemiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
53citing papers in PubMed, 1 pooled it
3.8field-weighted citation impact, top 7% 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

53 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.

  1. Pooled it
  2. Identifying the Lipidomic Effects of a Rare Loss-of-Function Deletion inCirculation. Genomic and precision medicine · 2021
    Trial
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  13. A genealogical estimate of genetic relationships.American journal of human genetics · 2022
    Article
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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.

Lide HanDepartment of Human Genetics, University of Chicago, Illinois, USA.
Mark Abney
University of Chicago · US

Funding

Methods for Complex Trait Mapping in Large PedigreesR01HG002899 · NHGRI · UNIVERSITY OF CHICAGO · PI ABNEY, MARK A · 2004 to 2015
$3.5M
NHGRI NIH HHS R01 HG002899NHGRI NIH HHS R01HG002899
6 · The paper itself

Abstract

We present a novel method, IBDLD, for estimating the probability of identity by descent (IBD) for a pair of related individuals at a locus, given dense genotype data and a pedigree of arbitrary size and complexity. IBDLD overcomes the challenges of exact multipoint estimation of IBD in pedigrees of potentially large size and eliminates the difficulty of accommodating the background linkage disequilibrium (LD) that is present in high-density genotype data. We show that IBDLD is much more accurate at estimating the true IBD sharing than methods that remove LD by pruning SNPs and is highly robust to pedigree errors or other forms of misspecified relationships. The method is fast and can be used to estimate the probability for each possible IBD sharing state at every SNP from a high-density genotyping array for hundreds of thousands of pairs of individuals. We use it to estimate point-wise and genomewide IBD sharing between 185,745 pairs of subjects all of whom are related through a single, large and complex 13-generation pedigree and genotyped with the Affymetrix 500 k chip. We find that we are able to identify the true pedigree relationship for individuals who were misidentified in the collected data and estimate empirical kinship coefficients that can be used in follow-up QTL mapping studies. IBDLD is implemented as an open source software package and is freely available.

Indexed as

Genome-Wide Association StudyAlgorithmsComputer SimulationFemaleGenotypeHumansLinkage DisequilibriumMaleModels, GeneticMolecular EpidemiologyOligonucleotide Array Sequence AnalysisPedigreeProbabilityQuantitative Trait LociReproducibility of Results

Identifiers

PMID21769932
PMCPMC3587128
OpenAlexW1999172566

What OpenQuestion holds

Textmetadata
LicenceTDM
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.