Detection of False-Positive Deletions from the Database of Genomic Variants.
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ABSTRACT:
SUBMITTER: Duan J
PROVIDER: S-EPMC6475568 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Publications
Detection of False-Positive Deletions from the Database of Genomic Variants.
Duan Junbo J Liu Han H Zhao Lanling L Yuan Xiguo X Wang Yu-Ping YP Wan Mingxi M
BioMed research international 20190404
Next generation sequencing is an emerging technology that has been widely used in the detection of genomic variants. However, since its depth of coverage, a main signature used for variant calling, is affected greatly by biases such as GC content and mappability, some callings are false positives. In this study, we utilized paired-end read mapping, another signature that is not affected by the aforementioned biases, to detect false-positive deletions in the database of genomic variants. We first ...[more]
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