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Title: On the use of dense SNP marker data for the identification of distant relative pairs.
Authors: Sun, M.
Jobling, Mark A.
Taliun, D.
Pramstaller, P. P.
Egeland, T.
Sheehan, Nuala Ann
First Published: 16-Oct-2015
Publisher: Elsevier
Citation: Theoretical Population Biology, 2016, 107, pp. 14-25
Abstract: There has been recent interest in the exploitation of readily available dense genome scan marker data for the identification of relatives. However, there are conflicting findings on how informative these data are in practical situations and, in particular, sets of thinned markers are often used with no concrete justification for the chosen spacing. We explore the potential usefulness of dense single nucleotide polymorphism (SNP) arrays for this application with a focus on inferring distant relative pairs. We distinguish between relationship estimation, as defined by a pedigree connecting the two individuals of interest, and estimation of general relatedness as would be provided by a kinship coefficient or a coefficient of relatedness. Since our primary interest is in the former case, we adopt a pedigree likelihood approach. We consider the effect of additional SNPs and data on an additional typed relative, together with choice of that relative, on relationship inference. We also consider the effect of linkage disequilibrium. When overall relatedness, rather than the specific relationship, would suffice, we propose an approximate approach that is easy to implement and appears to compete well with a popular moment-based estimator and a recent maximum likelihood approach based on chromosomal sharing. We conclude that denser marker data are more informative for distant relatives. However, linkage disequilibrium cannot be ignored and will be the main limiting factor for applications to real data.
DOI Link: 10.1016/j.tpb.2015.10.002
ISSN: 0040-5809
eISSN: 1096-0325
Version: Post-print
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © 2015 Elsevier Inc. All rights reserved. This manuscript version is made available after the end of the embargo period under the CC-BY-NC-ND 4.0 license
Description: The file associated with this record is under a 12-month embargo from publication in accordance with the publisher's self-archiving policy, available at The full text may be available through the publisher links provided above.
Appears in Collections:Published Articles, Dept. of Health Sciences

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