Article

A robust benchmark for evaluating and improving mosaic variant calling strategies

2022-01-11

Abstract excerpt

<title>Abstract</title> <p>The rapid advances in sequencing and analysis technologies have enabled the accurate detection of diverse forms of genomic variants, including germline, somatic, and mosaic mutations. However, unlike for the former two mutations, the best practices for mosaic variant calling still remain chaotic due to the technical and conceptual difficulties faced in evaluation. Here, we present our b...

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Literature Corpus work: 59a50af3-7858-5f42-8960-4d1960c7bc35
DOI: 10.21203/rs.3.rs-871399/v1

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