Related Experiment Video
Updated: Jul 6, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
Symphonizing pileup and full-alignment for deep learning-based long-read variant calling
Zhenxian Zheng1, Shumin Li1, Junhao Su1
1Department of Computer Science, The University of Hong Kong, Hong Kong, China.
Abstract:
Deep learning-based variant callers are becoming the standard and have achieved superior single nucleotide polymorphisms calling performance using long reads. Here we present Clair3, which leverages two major method categories: pileup calling handles most variant candidates with speed, and full-alignment tackles complicated candidates to maximize precision and recall. Clair3 runs faster than any of the other state-of-the-art variant callers and demonstrates improved performance, especially at lower coverage.
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