Article

Clair-Mosaic: A deep-learning method for long-read mosaic small variant calling

2025-11-02

Abstract excerpt

Mosaic variants, defined as postzygotic mutations occurring during an organism’s development from zygote to adult, play critical roles in developmental biology, aging, and diseases such as cancer and neurological disorders. However, their accurate detection remains challenging due to low abundance in the genome and low variant allelic fractions (VAF). While current mosaic variant callers are primarily designed for...

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Literature Corpus work: a08d859f-4c64-5768-84e2-1549993fdded
DOI: 10.1101/2025.10.31.685831

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