NgsRelate: a software tool for estimating pairwise relatedness from next-generation sequencing data
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NgsRelate : a software tool for estimating pairwise relatedness from next-generation sequencing data. / Korneliussen, Thorfinn Sand; Moltke, Ida.
In: Bioinformatics (Oxford, England), Vol. 31, No. 24, 2015, p. 4009-4011.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - NgsRelate
T2 - a software tool for estimating pairwise relatedness from next-generation sequencing data
AU - Korneliussen, Thorfinn Sand
AU - Moltke, Ida
N1 - © The Author 2015. Published by Oxford University Press.
PY - 2015
Y1 - 2015
N2 - MOTIVATION: Pairwise relatedness estimation is important in many contexts such as disease mapping and population genetics. However, all existing estimation methods are based on called genotypes, which is not ideal for next-generation sequencing (NGS) data of low depth from which genotypes cannot be called with high certainty.RESULTS: We present a software tool, NgsRelate, for estimating pairwise relatedness from NGS data. It provides maximum likelihood estimates that are based on genotype likelihoods instead of genotypes and thereby takes the inherent uncertainty of the genotypes into account. Using both simulated and real data, we show that NgsRelate provides markedly better estimates for low-depth NGS data than two state-of-the-art genotype-based methods.AVAILABILITY: NgsRelate is implemented in C++ and is available under the GNU license at www.pop gen.dk/software.CONTACT: ida@binf.ku.dkSupplementary information: Supplementary data are available at Bioinformatics online.
AB - MOTIVATION: Pairwise relatedness estimation is important in many contexts such as disease mapping and population genetics. However, all existing estimation methods are based on called genotypes, which is not ideal for next-generation sequencing (NGS) data of low depth from which genotypes cannot be called with high certainty.RESULTS: We present a software tool, NgsRelate, for estimating pairwise relatedness from NGS data. It provides maximum likelihood estimates that are based on genotype likelihoods instead of genotypes and thereby takes the inherent uncertainty of the genotypes into account. Using both simulated and real data, we show that NgsRelate provides markedly better estimates for low-depth NGS data than two state-of-the-art genotype-based methods.AVAILABILITY: NgsRelate is implemented in C++ and is available under the GNU license at www.pop gen.dk/software.CONTACT: ida@binf.ku.dkSupplementary information: Supplementary data are available at Bioinformatics online.
U2 - 10.1093/bioinformatics/btv509
DO - 10.1093/bioinformatics/btv509
M3 - Journal article
C2 - 26323718
VL - 31
SP - 4009
EP - 4011
JO - Computer Applications in the Biosciences
JF - Computer Applications in the Biosciences
SN - 1471-2105
IS - 24
ER -
ID: 145240626