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The role of replicates for error mitigation in next-generation sequencing.


ABSTRACT: Advances in next-generation sequencing (NGS) technologies have rapidly improved sequencing fidelity and substantially decreased sequencing error rates. However, given that there are billions of nucleotides in a human genome, even low experimental error rates yield many errors in variant calls. Erroneous variants can mimic true somatic and rare variants, thus requiring costly confirmatory experiments to minimize the number of false positives. Here, we discuss sources of experimental errors in NGS and how replicates can be used to abate such errors.

SUBMITTER: Robasky K 

PROVIDER: S-EPMC4103745 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature

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The role of replicates for error mitigation in next-generation sequencing.

Robasky Kimberly K   Lewis Nathan E NE   Church George M GM  

Nature reviews. Genetics 20131210 1


Advances in next-generation sequencing (NGS) technologies have rapidly improved sequencing fidelity and substantially decreased sequencing error rates. However, given that there are billions of nucleotides in a human genome, even low experimental error rates yield many errors in variant calls. Erroneous variants can mimic true somatic and rare variants, thus requiring costly confirmatory experiments to minimize the number of false positives. Here, we discuss sources of experimental errors in NGS  ...[more]

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