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Title: ADEPT, a dynamic next generation sequencing data error-detection program with trimming

Abstract

Illumina is the most widely used next generation sequencing technology and produces millions of short reads that contain errors. These sequencing errors constitute a major problem in applications such as de novo genome assembly, metagenomics analysis and single nucleotide polymorphism discovery. In this study, we present ADEPT, a dynamic error detection method, based on the quality scores of each nucleotide and its neighboring nucleotides, together with their positions within the read and compares this to the position-specific quality score distribution of all bases within the sequencing run. This method greatly improves upon other available methods in terms of the true positive rate of error discovery without affecting the false positive rate, particularly within the middle of reads. We conclude that ADEPT is the only tool to date that dynamically assesses errors within reads by comparing position-specific and neighboring base quality scores with the distribution of quality scores for the dataset being analyzed. The result is a method that is less prone to position-dependent under-prediction, which is one of the most prominent issues in error prediction. The outcome is that ADEPT improves upon prior efforts in identifying true errors, primarily within the middle of reads, while reducing the false positive rate.

Authors:
 [1];  [1];  [1];  [1]
  1. Los Alamos National Lab. (LANL), Los Alamos, NM (United States)
Publication Date:
Research Org.:
Los Alamos National Lab. (LANL), Los Alamos, NM (United States)
Sponsoring Org.:
USDOE
OSTI Identifier:
1248578
Report Number(s):
LA-UR-14-25592
Journal ID: ISSN 1471-2105; PII: 967
Grant/Contract Number:  
AC02-05CH11231; AC52-06NA25396; CB10152; Y1-DE-6006-02; HSHQDC08X00790; B104153I; B084531I
Resource Type:
Accepted Manuscript
Journal Name:
BMC Bioinformatics
Additional Journal Information:
Journal Volume: 17; Journal Issue: 1; Journal ID: ISSN 1471-2105
Publisher:
BioMed Central
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; Next generation sequencing; Illumina error prediction; Local quality scores; Position-specific quality

Citation Formats

Feng, Shihai, Lo, Chien-Chi, Li, Po-E, and Chain, Patrick S. G. ADEPT, a dynamic next generation sequencing data error-detection program with trimming. United States: N. p., 2016. Web. doi:10.1186/s12859-016-0967-z.
Feng, Shihai, Lo, Chien-Chi, Li, Po-E, & Chain, Patrick S. G. ADEPT, a dynamic next generation sequencing data error-detection program with trimming. United States. doi:10.1186/s12859-016-0967-z.
Feng, Shihai, Lo, Chien-Chi, Li, Po-E, and Chain, Patrick S. G. Mon . "ADEPT, a dynamic next generation sequencing data error-detection program with trimming". United States. doi:10.1186/s12859-016-0967-z. https://www.osti.gov/servlets/purl/1248578.
@article{osti_1248578,
title = {ADEPT, a dynamic next generation sequencing data error-detection program with trimming},
author = {Feng, Shihai and Lo, Chien-Chi and Li, Po-E and Chain, Patrick S. G.},
abstractNote = {Illumina is the most widely used next generation sequencing technology and produces millions of short reads that contain errors. These sequencing errors constitute a major problem in applications such as de novo genome assembly, metagenomics analysis and single nucleotide polymorphism discovery. In this study, we present ADEPT, a dynamic error detection method, based on the quality scores of each nucleotide and its neighboring nucleotides, together with their positions within the read and compares this to the position-specific quality score distribution of all bases within the sequencing run. This method greatly improves upon other available methods in terms of the true positive rate of error discovery without affecting the false positive rate, particularly within the middle of reads. We conclude that ADEPT is the only tool to date that dynamically assesses errors within reads by comparing position-specific and neighboring base quality scores with the distribution of quality scores for the dataset being analyzed. The result is a method that is less prone to position-dependent under-prediction, which is one of the most prominent issues in error prediction. The outcome is that ADEPT improves upon prior efforts in identifying true errors, primarily within the middle of reads, while reducing the false positive rate.},
doi = {10.1186/s12859-016-0967-z},
journal = {BMC Bioinformatics},
number = 1,
volume = 17,
place = {United States},
year = {2016},
month = {2}
}

Journal Article:
Free Publicly Available Full Text
Publisher's Version of Record

Figures / Tables:

Fig. 1 Fig. 1: Comparison of predicted error rates with observed error rates. The solid line represents the theoretical, predicted error rate given a Q score, P = 10^(−Q/10), where Q is the Phred quality score and P is the predicted error rate. The actual error rates for all called Q scoresmore » are the mean values calculated from all nucleotide positions within all reads for the three datasets: Burkholderia thailandensis (square), Yersinia aldovae (triangle), and Francisella philomiragia (circle). 95 % confidence limits were used as error bars, however, due to the large amount of data sampled, the error bars are too small to be seen, and are covered by the height of the symbol« less

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Works referenced in this record:

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    Figures/Tables have been extracted from DOE-funded journal article accepted manuscripts.