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


ABSTRACT: 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).

SUBMITTER: Hanghoj K 

PROVIDER: S-EPMC6488770 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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

Hanghøj Kristian K   Moltke Ida I   Andersen Philip Alstrup PA   Manica Andrea A   Korneliussen Thorfinn Sand TS  

GigaScience 20190501 5


<h4>Background</h4>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.<h4>Results</h4>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  ...[more]

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