An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
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Romero R, et al. Among authors: damian a.
NPJ Genom Med. 2022 Jan 27;7(1):7. doi: 10.1038/s41525-021-00278-6.
NPJ Genom Med. 2022.
PMID: 35087072
Free PMC article.