Author

Pei‐Hsuan Lin

National Taiwan UniversityORCID 0000-0001-5028-8434Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant calling· 2 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Chen‐Chi WuiD· 2 shared Cheng‐Yu TsaiiD· 2 shared Chuan‐Jen HsuiD· 2 shared Pei‐Lung CheniD· 2 shared Yue-Sheng Lu· 2 shared Bayasgalan Gombojav· 1 shared Chien‐Hsing Lin· 1 shared Ho-Peng Hsu· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Chen‐Chi WuORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 3, 2025

Unique SLC26A4 Mutation Spectrum in Mongolian Patients with Enlarged Vestibular Aqueduct: A Whole-Exome Sequencing Study

Jargalkhuu Erdenechuluun, Bayasgalan Gombojav, Tserendulam Batsaikan…·Chen‐Chi Wu

This study identifies biallelic SLC26A4 pathogenic variants in all Mongolian EVA patients, revealing a unique mutation spectrum across East, North, and Southwest Asian populations.

DOI 10.1101/2025.02.03.25321220

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintNov 5, 2024

Comprehensive genetic analysis of STRC variants in hereditary hearing impairment using long-read sequencing

Cheng‐Yu Tsai, Yue-Sheng Lu, Yu‐Ting Chiang…·Chen‐Chi Wu

This study uses long-read sequencing to identify STRC variants in patients with hereditary hearing impairment, finding 11% diagnostic yield and highlighting LRS's ability to detect complex variants missed by conventional NGS.

1 citation

humanlong-read sequencing

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