Symphonizing pileup and full-alignment for deep learning-based long-read variant calling

Zheng, Z.; Li, S.; Su, J.; Leung, A. W.-S.; Lam, T.-W.; Luo, R.

doi:10.1101/2021.12.29.474431

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bioRxiv · 10.1101/2021.12.29.474431

Symphonizing pileup and full-alignment for deep learning-based long-read variant calling

Zheng, Z.·Li, S.·Su, J.·Leung, A. W.-S.·Lam, T.-W.·Luo, R.

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Abstract

Deep learning-based variant callers are becoming the standard and have achieved superior SNP calling performance using long reads. In this paper, we present Clair3, which leveraged the best of two major method categories: pile-up calling handles most variant candidates with speed, and full-alignment tackles complicated candidates to maximize precision and recall. Clair3 ran faster than any of the other state-of-the-art variant callers and performed the best, especially at lower coverage.

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Zheng, Z., Li, S., Su, J., Leung, A. W.-S., Lam, T.-W., Luo, R.. 2021-12-30. Symphonizing pileup and full-alignment for deep learning-based long-read variant calling. https://doi.org/10.1101/2021.12.29.474431

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