ArticleNPJ genomic medicine2026
Integrative analysis of in silico predictions and clinical evidence to delineate the capability of HiFi long-read sequencing in paralogous genes.
Article in NPJ genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Paralogous genes challenge short-read sequencing (SRS) due to high sequence similarity. Although long-read sequencing (LRS) improves resolution, the extent to which it resolves paralogous genes remains unclear. This study evaluates the capability of LRS by integrating in silico mappability-based predictions with clinical data to generate SRS- and LRS-unresolved gene lists, and by assessing whether a paralog-specific phasing, Paraphase, can overcome remaining limitations. Mappability was simulated across read lengths (250 bp to 14 kb) to predict unresolved regions and validated against mapping quality (MQ) from 66 high-fidelity LRS samples. Paraphase was applied to 79 paralog groups. Among 645 medically relevant (MR) genes unresolved by SRS, 419 (65.0%) were predicted to be resolved by LRS, while 226 (35.0%) remained unresolved. These predictions correlated with clinical MQ (χ² = 92.43, p < 2.2 × 10
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