Genotyping of selected germline adaptive immune system loci using short-read sequencing data

Table 2.

Summary of allele presence call accuracy on 1000 Genomes samples (IGLV: n = 15; TRAV: n = 12) using orthogonal long-read assembly data as the ground truth

Mean Median
Gene type Precision Recall Precision Recall
IGLV 0.928 0.934 0.971 0.971
TRAV 0.916 0.991 0.925 1.0

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  1. Published in Advance August 5, 2025, doi: 10.1101/gr.280314.124 Genome Res. 35: 2076-2086

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