Article

Quartet DNA reference materials and datasets for comprehensively evaluating germline variants calling performance

2022-09-28

Abstract excerpt

Current methods for evaluating the accuracy of germline variant calls are restricted to easy-to-detect high-confidence regions, thus ignoring a substantial portion of difficult variants beyond the benchmark regions. We established four DNA reference materials from immortalized cell lines derived from a Chinese Quartet including parents and monozygotic twins. We integrated benchmark calls of 4.2 million small varia...

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Identifiers and source

Literature Corpus work: 48f40667-7e30-5c97-a914-36115e8cd72f
DOI: 10.1101/2022.09.28.509844

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