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November 23, 2025Journal of Clinical ImmunologyOpen Access

Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis

Jong Kwon Lee Ja‐Hyun Jang Doo Ri Kim Young‐Gon Kim Jong‐Won Kim Yae‐Jean Kim

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Abstract

WGS facilitated the robust identification of causative genetic variants, including complex structural changes. These results suggest that employing WGS in patients suspected of IEIs could provide additional diagnostic yield.

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Lee et al. (2025) studied this question.

synapsesocial.com/papers/69403fa32d562116f290e3ce https://doi.org/10.1007/s10875-025-01947-2

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