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NGSremix:A software tool for estimating pairwise relatedness between admixed individuals from next-generation sequencing data
- Source :
- Nøhr, A K, Hanghøj, K, Garcia-Erill, G, Li, Z, Moltke, I & Albrechtsen, A 2021, ' NGSremix : A software tool for estimating pairwise relatedness between admixed individuals from next-generation sequencing data ', G3: Genes, Genomes, Genetics, vol. 11, no. 8, jkab174 . https://doi.org/10.1093/g3journal/jkab174, G3: Genes, Genomes, Genetics, Vol 11, Iss 8 (2021), G3, G3: Genes|Genomes|Genetics
- Publication Year :
- 2021
-
Abstract
- Estimation of relatedness between pairs of individuals is important in many genetic research areas. When estimating relatedness, it is important to account for admixture if this is present. However, the methods that can account for admixture are all based on genotype data as input, which is a problem for low depth next-generation sequencing (NGS) data from which genotypes are called with high uncertainty. Here we present a software tool, NGSremix, for maximum likelihood estimation of relatedness between pairs of admixed individuals from low depth NGS data, which takes the uncertainty of the genotypes into account via geno-type likelihoods. Using both simulated and real NGS data for admixed individuals with an average depth of 4x or below we show that our method works well and clearly outperforms all the commonly used state-of-the-art relatedness estimation methods PLINK, KING, relateAdmix, and ngsRelate that all perform quite poorly. Hence, NGSremix is a useful new tool for estimating relatedness in admixed populations from low-depth NGS data. NGSremix is implemented in C/C++ in a multi-threaded software and is freely available on Githubhttps://github.com/KHanghoj/NGSremix.
- Subjects :
- AcademicSubjects/SCI01140
relatedness
Genotype
Research areas
AcademicSubjects/SCI00010
Computer science
Maximum likelihood
Software tool
low-depth NGS data
maximum likelihood estimation
Biology
Software and Data Resources
QH426-470
AcademicSubjects/SCI01180
computer.software_genre
Polymorphism, Single Nucleotide
genotype likelihoods
DNA sequencing
03 medical and health sciences
Software
0302 clinical medicine
Genetics
Humans
Molecular Biology
Genetics (clinical)
Probability
030304 developmental biology
0303 health sciences
business.industry
High-Throughput Nucleotide Sequencing
Genetics, Population
AcademicSubjects/SCI00960
admixture
Pairwise comparison
Data mining
Estimation methods
business
computer
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Nøhr, A K, Hanghøj, K, Garcia-Erill, G, Li, Z, Moltke, I & Albrechtsen, A 2021, ' NGSremix : A software tool for estimating pairwise relatedness between admixed individuals from next-generation sequencing data ', G3: Genes, Genomes, Genetics, vol. 11, no. 8, jkab174 . https://doi.org/10.1093/g3journal/jkab174, G3: Genes, Genomes, Genetics, Vol 11, Iss 8 (2021), G3, G3: Genes|Genomes|Genetics
- Accession number :
- edsair.doi.dedup.....dff71c019f05ff72ebe5d1fed8002522