Random forest classifiers trained on simulated data enable accurate short read-based genotyping of structural variants in the alpha globin region at Chr16p13.3
Nancy Fisher Hansen, Xunde Wang, Mickias B. Tegegn, Zhi Liu, Mateus Henrique Gouveia, Gracelyn Hill, Jennifer Lin, Temiloluwa Okulosubo, Daniel Shriner, Swee Lay Thein, James C. Mullikin
The paper uses random forest classifiers trained on simulated data to accurately genotype structural variants in the alpha globin region, outperforming existing software in ancestry-specific allele frequency estimation.
bioRxiv · Nov 27, 2023 · PreprintBioinformatics