Evidence map›Paper›PMID 18971310›Full record

ArticleGenome research2009

Whole population, genome-wide mapping of hidden relatedness.

Alexander Gusev, Jennifer K Lowe, Markus Stoffel, Mark J Daly, David Altshuler, Jan L Breslow, Jeffrey M Friedman, Itsik Pe'er

Abstract readComparative StudyEvaluation Study
In one paragraph

Article in Genome research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 257 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
257citing papers in PubMed, 3 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

257 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
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  6. HiFiMAP: High-resolution fast identity-by-descent mapping test.medRxiv : the preprint server for health sciences · 2026
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  17. Runs of Homozygosity Preliminary Investigation in Pig Breeds.Animals : an open access journal from MDPI · 2025
    Article
  18. Estimating realized relatedness in free-ranging macaques by inferring identity-by-descent segments.Proceedings of the National Academy of Sciences of the United States of America · 2025
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  19. Article
  20. Article

197 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

8 authors.

Alexander GusevDepartment of Computer Science, Columbia University, New York, New York 10027, USA. gusev@cs.columbia.edu
Jennifer K Lowe
Markus Stoffel
Mark J Daly
David Altshuler
Jan L Breslow
Jeffrey M Friedman
Itsik Pe'er

Funding

Nation Center: Multi-Scale Study- Cellular Networks(RMI)U54CA121852 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CALIFANO, ANDREA · 2005 to 2015
$37.4M
Genetics of MODY in families of African DescentR01DK060089 · NIDDK · ROCKEFELLER UNIVERSITY · PI STOFFEL, MARKUS · 2001 to 2003
$952k
Howard Hughes Medical InstituteNCI NIH HHS 5 U54 CA121852NCI NIH HHS U54 CA121852NIDDK NIH HHS 5R01 DK60089NIDDK NIH HHS R01 DK060089
6 · The paper itself

Abstract

We present GERMLINE, a robust algorithm for identifying segmental sharing indicative of recent common ancestry between pairs of individuals. Unlike methods with comparable objectives, GERMLINE scales linearly with the number of samples, enabling analysis of whole-genome data in large cohorts. Our approach is based on a dictionary of haplotypes that is used to efficiently discover short exact matches between individuals. We then expand these matches using dynamic programming to identify long, nearly identical segmental sharing that is indicative of relatedness. We use GERMLINE to comprehensively survey hidden relatedness both in the HapMap as well as in a densely typed island population of 3000 individuals. We verify that GERMLINE is in concordance with other methods when they can process the data, and also facilitates analysis of larger scale studies. We bolster these results by demonstrating novel applications of precise analysis of hidden relatedness for (1) identification and resolution of phasing errors and (2) exposing polymorphic deletions that are otherwise challenging to detect. This finding is supported by concordance of detected deletions with other evidence from independent databases and statistical analyses of fluorescence intensity not used by GERMLINE.

Indexed as

Family RelationsGenetics, PopulationAlgorithmsChromosome MappingConsanguinityHaplotypesHumansInheritance PatternsModels, GeneticPhylogenyPolymorphism, Single NucleotideSensitivity and Specificity

Identifiers

PMID18971310
PMCPMC2652213

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.