Author

Ming‐Yu Lo

National Taiwan University Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Chen‐Chi WuiD· 1 shared Cheng‐Yu TsaiiD· 1 shared Chuan‐Jen HsuiD· 1 shared Jacob Shujui HsuiD· 1 shared Pei‐Hsuan LiniD· 1 shared Pei‐Lung CheniD· 1 shared Shih‐Feng TsaiiD· 1 shared Yu‐Ting ChiangiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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9 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Chen‐Chi WuORCID

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1 paper

Recent·Most cited

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

Cheng‐Yu Tsai, Yue-Sheng Lu, Yu‐Ting Chiang, Ming‐Yu Lo, Pei‐Hsuan Lin, Shih‐Feng Tsai, Chuan‐Jen Hsu, Pei‐Lung Chen, Jacob Shujui Hsu, 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.

medRxiv · Nov 5, 2024 · PreprintGenetic & Genomic Medicine