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NgsRelate:一种用于从下一代测序数据估计成对亲缘关系的软件工具。

NgsRelate: a software tool for estimating pairwise relatedness from next-generation sequencing data.

作者信息

Korneliussen Thorfinn Sand, Moltke Ida

机构信息

Center for GeoGenetics and.

Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark.

出版信息

Bioinformatics. 2015 Dec 15;31(24):4009-11. doi: 10.1093/bioinformatics/btv509. Epub 2015 Aug 30.

Abstract

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.popgen.dk/software.

摘要

动机

成对亲缘关系估计在疾病图谱绘制和群体遗传学等许多背景下都很重要。然而,所有现有的估计方法都是基于已分型的基因型,这对于低深度的下一代测序(NGS)数据并不理想,因为这类数据无法高度确定地进行基因型分型。

结果

我们提出了一种软件工具NgsRelate,用于从NGS数据估计成对亲缘关系。它提供基于基因型似然性而非基因型的最大似然估计,从而考虑到了基因型固有的不确定性。通过使用模拟数据和真实数据,我们表明,对于低深度NGS数据,NgsRelate比两种基于基因型的先进方法能提供明显更好的估计。

可用性

NgsRelate用C++实现,可在www.popgen.dk/software上根据GNU许可获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f0d6/4673978/22f6bc11fd8d/btv509f1p.jpg

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