Evidence map›Paper›PMID 33385324›Full record

ArticleAmerican journal of human genetics2021

Distinguishing pedigree relationships via multi-way identity by descent sharing and sex-specific genetic maps.

Ying Qiao, Jens G Sannerud, Sayantani Basu-Roy, Caroline Hayward, Amy L Williams

Abstract read
In one paragraph

Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

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0cells of the map it votes in
21citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

21 citing papers in PubMed.

  1. Review
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  9. 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
    Article
  10. Reconstructing parent genomes using siblings and other relatives.bioRxiv : the preprint server for biology · 2024
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Parent-offspring inference in inbred populations.Molecular ecology resources · 2022
    Article
  16. Article
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  18. Article
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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Ying QiaoDepartment of Computational Biology, Cornell University, Ithaca, NY 14853, USA.
Jens G SannerudDepartment of Computational Biology, Cornell University, Ithaca, NY 14853, USA.
Sayantani Basu-RoyDepartment of Computational Biology, Cornell University, Ithaca, NY 14853, USA.
Caroline HaywardMRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
Amy L WilliamsDepartment of Computational Biology, Cornell University, Ithaca, NY 14853, USA. Electronic address: alw289@cornell.edu.

Funding

PREDOCTORAL TRAINING IN GENETICS AND DEVELOPMENTT32GM007617 · NIGMS · CORNELL UNIVERSITY ITHACA · PI BARBASH, DANIEL A · 1985 to 2021
$5.5M
Scalable methods for the characterization and analysis of families in large genomic datasetsR35GM133805 · NIGMS · CORNELL UNIVERSITY · PI WILLIAMS, AMY LYNNE · 2019 to 2023
$1.6M
Medical Research Council MC_UU_00007/10NIGMS NIH HHS R35 GM133805NIGMS NIH HHS T32 GM007617Wellcome TrustWellcome Trust 076113Wellcome Trust 085475Wellcome Trust 090355Wellcome Trust 104036/Z/14/Z
6 · The paper itself

Abstract

The proportion of samples with one or more close relatives in a genetic dataset increases rapidly with sample size, necessitating relatedness modeling and enabling pedigree-based analyses. Despite this, relatives are generally unreported and current inference methods typically detect only the degree of relatedness of sample pairs and not pedigree relationships. We developed CREST, an accurate and fast method that identifies the pedigree relationships of close relatives. CREST utilizes identity by descent (IBD) segments shared between a pair of samples and their mutual relatives, leveraging the fact that sharing rates among these individuals differ across pedigree configurations. Furthermore, CREST exploits the profound differences in sex-specific genetic maps to classify pairs as maternally or paternally related-e.g., paternal half-siblings-using the locations of autosomal IBD segments shared between the pair. In simulated data, CREST correctly classifies 91.5%-100% of grandparent-grandchild (GP) pairs, 80.0%-97.5% of avuncular (AV) pairs, and 75.5%-98.5% of half-siblings (HS) pairs compared to PADRE's rates of 38.5%-76.0% of GP, 60.5%-92.0% of AV, 73.0%-95.0% of HS pairs. Turning to the real 20,032 sample Generation Scotland (GS) dataset, CREST identified seven pedigrees with incorrect relationship types or maternal/paternal parent sexes, five of which we confirmed as mistakes, and two with uncertain relationships. After correcting these, CREST correctly determines relationship types for 93.5% of GP, 97.7% of AV, and 92.2% of HS pairs that have sufficient mutual relative data; the parent sex in 100% of HS and 99.6% of GP pairs; and it completes this analysis in 2.8 h including IBD detection in eight threads.

Indexed as

FemaleGenetic LinkageGenome, HumanGenotypeHumansMaleModels, GeneticPedigreeScotlandgenetic relatednessidentity by descentpedigree reconstructionsex-specific genetic maps

Identifiers

PMID33385324
PMCPMC7820736

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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.