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Table 2 Performances (F1 scores in %) of SNP predictions in difficult-to-map regions and Major Histocompatibility Complex (MHC) by NanoCaller, Medaka, Clair, and Longshot on ONT data. These evaluations are performed against v4.2.1 benchmark variants for the Ashkenazim trio (HG002, HG003, and HG004), whereas “HG002 Bonito” and “HG002 R10.3” are different HG002 ONT datasets

From: NanoCaller for accurate detection of SNPs and indels in difficult-to-map regions from long-read sequencing by haplotype-aware deep neural networks

Prediction Variant caller HG002 HG003 HG004 HG002 Bonito HG002 R10.3
SNPs on ONT data in difficult-to-map regions NanoCaller ONT-HG001 95.80 96.83 96.70 97.44 96.34
NanoCaller ONT-HG002 96.18 96.92 96.92 97.38 96.44
Medaka 95.41 96.46 96.46 96.51 94.20
Clair 94.98 96.27 96.12 95.63 84.83
Longshot 93.95 94.61 94.55 95.42 93.00
SNPs on ONT data in MHC NanoCaller ONT-HG001 98.65 99.06 99.18 99.45 98.46
NanoCaller ONT-HG002 98.86 99.19 99.28 99.46 98.69
Medaka 97.62 99.25 98.10 98.24 98.24
Clair 97.60 98.51 98.57 98.97 92.06
Longshot 68.52 73.13 69.40 68.48 68.41