Author

Man‐Ting So

University of Hong Kong

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

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Bhy ChungiD· 1 shared Christopher O’CallaghaniD· 1 shared Clara Sze-Man TangiD· 1 shared Dagan JenkinsiD· 1 shared Diem Ngoc Ngo· 1 shared Hannah M. MitchisoniD· 1 shared Jacob Shujui HsuiD· 1 shared María-Mercé García-BarcelóiD· 1 shared

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 5, 2020

Whole exome sequencing reveals a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia

Wai-Yee Lam, Man‐Ting So, Jacob Shujui Hsu…·Paul Kwong Hang Tam

The paper uses whole exome sequencing to identify ciliary gene mutations in nonsyndromic biliary atresia, finding significant enrichment of deleterious variants in liver-expressed ciliary genes.

DOI 10.1101/2020.05.05.20091504

humanwhole-exome sequencing

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