A likelihood ratio approach for identifying three-quarter siblings in genetic databases.

作者: Lauro Sumoy , Jan Graffelman , Jan Graffelman , Victor Moreno , Rafael de Cid

DOI: 10.1038/S41437-020-00392-8

关键词:

摘要: The detection of family relationships in genetic databases is interest various scientific disciplines such as epidemiology, population and conservation genetics, forensic science, genealogical research. Nowadays, screening for related individuals forms an important aspect standard quality control procedures. Relatedness research usually based on allele sharing analysis identity by state (IBS) or descent (IBD) alleles. Existing IBS/IBD methods mainly aim to identify first-degree (parent-offspring full siblings) second degree (half-siblings, avuncular, grandparent-grandchild) pairs. Little attention has been paid the in-between first second-degree three-quarter siblings (3/4S) who share fewer alleles than but more relationships. With progressively increasing sample sizes used research, it becomes likely that are present database under study. In this paper, we extend existing likelihood ratio (LR) methodology accurately infer existence 3/4S, distinguishing them from relatives. We use bootstrap confidence intervals express uncertainty LRs. Our proposal accounts linkage disequilibrium (LD) using marker pruning, validate our with a pedigree-based simulation study accounting both LD recombination. An empirical genome-wide array data set GCAT Genomes Life cohort project illustrate method.

参考文章(44)
Elizabeth A. Thompson, 8 Estimation of relationships from genetic data Handbook of Statistics. ,vol. 8, pp. 255- 269 ,(1991) , 10.1016/S0169-7161(05)80164-6
Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman, Deborah A. Nickerson, Jennifer E. Below, PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. American Journal of Human Genetics. ,vol. 95, pp. 553- 564 ,(2014) , 10.1016/J.AJHG.2014.10.005
Gonçalo R. Abecasis, Janis E. Wigginton, Handling Marker-Marker Linkage Disequilibrium: Pedigree Analysis with Clustered Markers American Journal of Human Genetics. ,vol. 77, pp. 754- 767 ,(2005) , 10.1086/497345
Daniel Kling, Andreas Tillmar, Thore Egeland, Petter Mostad, A general model for likelihood computations of genetic marker data accounting for linkage, linkage disequilibrium, and mutations. International Journal of Legal Medicine. ,vol. 129, pp. 943- 954 ,(2015) , 10.1007/S00414-014-1117-7
Hormuzd A. Katki, Christopher L. Sanders, Barry I. Graubard, Andrew W. Bergen, Using DNA Fingerprints to Infer Familial Relationships Within NHANES III Households Journal of the American Statistical Association. ,vol. 105, pp. 552- 563 ,(2010) , 10.1198/JASA.2010.AP09258
Bruce S. Weir, Amy D. Anderson, Amanda B. Hepler, Genetic relatedness analysis: modern data and new challenges. Nature Reviews Genetics. ,vol. 7, pp. 771- 780 ,(2006) , 10.1038/NRG1960
Christopher L. Campbell, Nicholas A. Furlotte, Nick Eriksson, David Hinds, Adam Auton, Escape from crossover interference increases with maternal age Nature Communications. ,vol. 6, pp. 6260- 6260 ,(2015) , 10.1038/NCOMMS7260
Carl A Anderson, Fredrik H Pettersson, Geraldine M Clarke, Lon R Cardon, Andrew P Morris, Krina T Zondervan, None, Data quality control in genetic case-control association studies Nature Protocols. ,vol. 5, pp. 1564- 1573 ,(2010) , 10.1038/NPROT.2010.116
E. A. THOMPSON, The estimation of pairwise relationships. Annals of Human Genetics. ,vol. 39, pp. 173- 188 ,(1975) , 10.1111/J.1469-1809.1975.TB00120.X