ClairS: a deep-learning method for long-read tumor-normal pair somatic small variant calling.

Abstract excerpt

Somatic variant discovery in tumors is crucial for clinical analysis, yet most existing methods are designed for short-read sequencing, with few developed specifically for long reads. Here we present Clair-Somatic (ClairS), a deep-learning-based somatic small-variant caller designed for long-read tumor-normal pairs. Trained on synthetic somatic variants with diverse coverages and variant allele fractions, ClairS...

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• Cell Line, Tumor
• Deep Learning
• High-Throughput Nucleotide Sequencing
• INDEL Mutation
• Neoplasms