Fast and accurate relatedness estimation from high-throughput sequencing data in the presence of inbreeding

被引:69
作者
Hanghoj, Kristian [1 ,2 ]
Moltke, Ida [3 ]
Andersen, Philip Alstrup [3 ]
Manica, Andrea [4 ]
Korneliussen, Thorfinn Sand [1 ,4 ]
机构
[1] Univ Copenhagen, Nat Hist Museum Denmark, Ctr GeoGenet, DK-1350 Copenhagen K, Denmark
[2] UPS, Univ Toulouse, Lab AMIS, CNRS,UMR 5288, Toulouse, France
[3] Univ Copenhagen, Dept Biol, Ole Maaloes Vej 5, DK-2200 Copenhagen, Denmark
[4] Univ Cambridge, Dept Zool, Downing St, Cambridge CB2 3EJ, England
来源
GIGASCIENCE | 2019年 / 8卷 / 05期
基金
新加坡国家研究基金会;
关键词
relatedness estimation; inbreeding; Jacquard coefficients; high-throughput sequencing data; genotype likelihood; next-generation sequencing; threading; population genetics; PAIRWISE RELATEDNESS; COEFFICIENTS;
D O I
10.1093/gigascience/giz034
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
Background: The estimation of relatedness between pairs of possibly inbred individuals from high-throughput sequencing (HTS) data has previously not been possible for samples where we cannot obtain reliable genotype calls, as in the case of low-coverage data. Results: We introduce ngsRelateV2, a major revision of ngsRelateV1, a program that originally allowed for estimation of relatedness from HTS data among non-inbred individuals only. The new revised version takes into account the possibility of individuals being inbred by estimating the 9 condensed Jacquard coefficients along with various other relatedness statistics. The program is threaded and scales linearly with the number of cores allocated to the process. Conclusion: The program is available as an open source C/C++ program under the GPL license and hosted at https://github.com/ANGSD/ngsRelate. To facilitate easy analysis, the program is able to work directly on the most commonly used container formats for raw sequence (BAM/CRAM) and summary data (VCF/BCF).
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页数:9
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