Evidence map›Paper›PMID 28739658›Full record

ArticleGenetics2017

Benchmarking Relatedness Inference Methods with Genome-Wide Data from Thousands of Relatives.

Monica D Ramstetter, Thomas D Dyer, Donna M Lehman, Joanne E Curran, Ravindranath Duggirala, John Blangero, Jason G Mezey, Amy L Williams

Abstract read
In one paragraph

Article in Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 1 pooled it
–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

59 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  9. Identity-by-descent segments in large samples.Theoretical population biology · 2025
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  20. Reconstructing parent genomes using siblings and other relatives.bioRxiv : the preprint server for biology · 2024
    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

8 authors.

Monica D RamstetterDepartment of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York 14853 mdr232@cornell.edu alw289@cornell.edu.
Thomas D DyerSouth Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville, Texas 78520.
Donna M LehmanDepartment of Medicine, University of Texas Health San Antonio, San Antonio, Texas 78229.
Joanne E CurranSouth Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville, Texas 78520.
Ravindranath DuggiralaSouth Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville, Texas 78520.
John BlangeroSouth Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville, Texas 78520.
Jason G MezeyDepartment of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York 14853.
Amy L WilliamsDepartment of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York 14853 mdr232@cornell.edu alw289@cornell.edu.ORCID 0000-0003-0737-0533

Funding

Whole Genome Sequencing to Identify Causal Genetic Variants Influencing CVD RiskR01HL113323 · NHLBI · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI BLANGERO, JOHN, CURRAN, JOANNE E. · 2012 to 2016
$8.2M
NIDDM SUSCEPTIBILITY GENES IN MEXICAN-AMERICANSR01DK047482 · NIDDK · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI LEHMAN, DONNA M · 1993 to 2010
$5.4M
SOLAR-Eclipse Computational Tools for Imaging GeneticsR01EB015611 · NIBIB · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI KOCHUNOV, PETER V. · 2012 to 2024
$5.0M
GENETICS OF GALLBLADDER DISEASE IN MEXICAN AMERICANSR01DK053889 · NIDDK · UNIVERSITY OF TEXAS HLTH SCI CTR SAN ANT · PI DUGGIRALA, RAVINDRANATH · 1998 to 2011
$2.3M
NHLBI NIH HHS R01 HL113323NIBIB NIH HHS R01 EB015611NIDDK NIH HHS R01 DK047482NIDDK NIH HHS R01 DK053889
6 · The paper itself

Abstract

Inferring relatedness from genomic data is an essential component of genetic association studies, population genetics, forensics, and genealogy. While numerous methods exist for inferring relatedness, thorough evaluation of these approaches in real data has been lacking. Here, we report an assessment of 12 state-of-the-art pairwise relatedness inference methods using a data set with 2485 individuals contained in several large pedigrees that span up to six generations. We find that all methods have high accuracy (92-99%) when detecting first- and second-degree relationships, but their accuracy dwindles to <43% for seventh-degree relationships. However, most identical by descent (IBD) segment-based methods inferred seventh-degree relatives correct to within one relatedness degree for >76% of relative pairs. Overall, the most accurate methods are Estimation of Recent Shared Ancestry (ERSA) and approaches that compute total IBD sharing using the output from GERMLINE and Refined IBD to infer relatedness. Combining information from the most accurate methods provides little accuracy improvement, indicating that novel approaches, such as new methods that leverage relatedness signals from multiple samples, are needed to achieve a sizeable jump in performance.

Indexed as

PedigreeBenchmarkingGenome, HumanGenome-Wide Association StudyGenotyping TechniquesHumansModels, GeneticPopulationadmixtureidentical by descentrelatedness estimation

Identifiers

PMID28739658
PMCPMC5586387

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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.