Jovian enables direct inference of germline haplotypes from short reads via sequence-to-sequence modeling
Brendan D. O’Fallon, Ashini Bolia, Jacob Durtschi, Luobin Yang, Eric Frederickson, Katherine Noble, Joshua F. Coleman, Hunter D. Best
Jovian uses a deep learning model to directly infer germline haplotypes from short reads, achieving high sensitivity and precision in variant detection.
bioRxiv · Sep 12, 2022 · PreprintBioinformatics