Variant classification challenges in genes associated with multiple disorders contribute to the persistent interlaboratory discordance

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Publication Details

Journal
Genome Medicine
Published
2026-10-16
DOI
https://doi.org/10.1186/s13073-026-01787-8
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

Variant classification challenges in genes associated with multiple disorders contribute to the persistent interlaboratory discordance

Wenkai Ji, Zhou Zhou, Yuan Gao, Junyu Zhang et al.
Genome Medicine
Genomics and Rare Diseases
article

Variant classification challenges in genes associated with multiple disorders contribute to the persistent interlaboratory discordance

Wenkai Ji, Zhou Zhou, Yuan Gao, Junyu Zhang, Guigao Lin, Jinli Li, Kuo Zhang, Wei Wang
article en

Abstract

No abstract available for this paper.
Genome Medicine
Shandong University (CN), Chinese Academy of Medical Sciences & Peking Union Medical College (CN), Shandong Mental Health Center (CN), National Center for Clinical Laboratories (CN), Shanghai First Maternity and Infant Hospital (CN)
Good health and well-being
Openalex Percentile: Top 15%
Genomics and Rare Diseases
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