PRIMUS: Improving Pedigree Reconstruction Using Mitochondrial and Y Haplotypes
Overview
Authors
Affiliations
Unlabelled: PRIMUS is a pedigree reconstruction algorithm that uses estimates of genome-wide identity by descent to reconstruct pedigrees consistent with observed genetic data. However, when genetic data for individuals within a pedigree are missing, often multiple pedigrees can be reconstructed that fit the data. We report a major expansion of PRIMUS that uses mitochondrial (mtDNA) and non-recombining Y chromosome (NRY) haplotypes to eliminate many pedigree structures that are inconsistent with the genetic data. We demonstrate that discordances in mtDNA and NRY haplotypes substantially reduce the number of potential pedigrees, and often lead to the identification of the correct pedigree.
Availability And Implementation: We have implemented PRIMUS updates in PERL and it is available at primus.gs.washington.edu.
Lancaster M, Chen H, Shoemaker M, Fleming M, Strickland T, Baker J Nat Commun. 2024; 15(1):7507.
PMID: 39209900 PMC: 11362435. DOI: 10.1038/s41467-024-51977-4.
Guidelines for genetic ancestry inference created through roundtable discussions.
Wagner J, Yu J, Fullwiley D, Moore C, Wilson J, Bamshad M HGG Adv. 2023; 4(2):100178.
PMID: 36798092 PMC: 9926022. DOI: 10.1016/j.xhgg.2023.100178.
Shaw D, Polikowsky H, Pruett D, Chen H, Petty L, Viljoen K Am J Hum Genet. 2021; 108(12):2271-2283.
PMID: 34861174 PMC: 8715184. DOI: 10.1016/j.ajhg.2021.11.004.
Petty L, Phillippi-Falkenstein K, Kubisch H, Raveendran M, Harris R, Vallender E Mol Ecol Resour. 2021; 21(4):1333-1346.
PMID: 33386679 PMC: 8247968. DOI: 10.1111/1755-0998.13317.
Alternative Applications of Genotyping Array Data Using Multivariant Methods.
Samuels D, Below J, Ness S, Yu H, Leng S, Guo Y Trends Genet. 2020; 36(11):857-867.
PMID: 32773169 PMC: 7572808. DOI: 10.1016/j.tig.2020.07.006.