scholarly journals Quality Assessment of High-throughput DNA Sequencing Data via Range analysis

2017 ◽  
Author(s):  
M. Oğuzhan Külekci ◽  
Ali Fotouhi ◽  
Mina Majidi

AbstractIn the recent literature there appeared a number of studies for the quality assessment of sequencing data. These efforts, to a great extent, focused on reporting the statistical parameters regarding to the distribution of the quality scores and/or the base-calls in a FASTQ file. We investigate another dimension for the quality assessment motivated with the fact that reads including long intervals having fewer errors improve the performances of the post-processing tools in the down-stream analysis. Thus, the quality assessment procedures proposed in this study aim to analyze the segments on the reads that are above a certain quality. We define an interval of a read to be of desired quality when there are at most k quality scores less than or equal to a threshold value v, for some v and k provided by the user. We present the algorithm to detect those ranges and introduce new metrics computed from their lengths. These metrics include the mean values for the longest, shortest, average, cubic average, and average variation coefficient of the fragment lengths that are appropriate according to the v and k input parameters. We provide a new software tool QASDRA for quality assessment of sequencing data via range analysis. QASDRA, implemented in Python, and publicly available at https://github.com/ali-cp/QASDRA.git, creates the quality assessment report of an input FASTQ file according to the user specified k and v parameters. It also has the capabilities to filter out the reads according to the metrics introduced.

Author(s):  
Anne Krogh Nøhr ◽  
Kristian Hanghøj ◽  
Genis Garcia Erill ◽  
Zilong Li ◽  
Ida Moltke ◽  
...  

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 genotype 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 Github https://github.com/KHanghoj/NGSremix.


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