Author

Yuan Chen

ORCID 0000-0002-4373-8270Unclaimed ORCID profile · follow to get notified of new preprints

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Yuan Chen5 papers · Imperial College London

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Chien‐Yu CheniD· 1 shared Jacob Shujui HsuiD· 1 shared Jia‐Hsin HuangiD· 1 shared Pei‐Lung CheniD· 1 shared Tzu-Mao Hung· 1 shared Tzu‐Hang Yuan· 1 shared Yu-Bin Wang· 1 shared

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2024-2024 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperGenomics

Chien‐Yu ChenORCID

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1 paper

Recent·Most cited

GenomicsbioRxivPreprintOct 11, 2024

Toward Automatic Variant Interpretation: Discordant Genetic Interpretation Across Variant Annotations for ClinVar Pathogenic Variants

Yuan Chen, Tzu‐Hang Yuan, Jia‐Hsin Huang…·Jacob Shujui Hsu

This paper evaluates the concordance of variant annotations from three tools on ClinVar variants, highlighting inconsistencies in pathogenicity interpretation.

DOI 10.1101/2024.10.11.617756

humanwhole-exome sequencing

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