Article
ralphi: a deep reinforcement learning framework for haplotype assembly
2025-02-21
Abstract excerpt
Haplotype assembly is the problem of reconstructing the combination of alleles on the maternally and paternally inherited chromosome copies. Individual haplotypes are essential to our understanding of how combinations of different variants impact phenotype. In this work, we focus on read-based haplotype assembly of individual diploid genomes, which reconstructs the two haplotypes directly from read alignments at v...
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Identifiers and source
- Literature Corpus work
- 7fc4771e-fe0b-5813-ad5f-cb00b83cf967
- DOI
- 10.1101/2025.02.17.638151
