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Chun Hang Au

As seen in: Nature, MDPI, Diagnostic Pathology
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Articles

Germline RAD51C and RAD51D Mutations in High-Risk Chinese Breast and/or Ovarian Cancer Patients and Families

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By Ava Kwong, Chun Hang Au, Sze Keong Tey, Cecilia Yuen Sze
| MDPI
All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.
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INSurVeyor: improving insertion calling from short read sequencing data - Nature Communications

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By Chun Hang Au, Qing-Yong Yang, Yuen-Ting Cheung
| Nature Verified
Excluding tandem duplications In both SV catalogues that we use as benchmark (GIAB-SV and HGSVC2), part of the insertions are due to tandem duplications. However, short-read based SV callers such as Manta and Delly report tandem duplications as a separate class of SVs from insertions. Furthermore, tandem duplications are outside of the scope of INSurVeyor, MELT, xTea and Pamir. Let R[1. .
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Rapid Breakpoint Mapping of a Novel Germline PALB2 Duplication by PCR-Free Long-Read Sequencing for Interpretation of Its Pathogenicity

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By Ava Kwong, Chun Hang Au, Vivian Y Shin, Dona N Ho
| ascopubs.org
© 2021 by American Society of Clinical OncologySUPPORT Supported by Asian Fund for Cancer Research, Health and Medical Research Fund 03143406, Seed Fund for Basic Research 201611159186 and 104005409, the Dr Ellen Li Charitable Foundation, the Kerry Kuok Foundation, and the Hong Kong Hereditary Breast Cancer Family Registry. AUTHOR CONTRIBUTIONS Conception and design: Ava Kwong, Chun Hang Au, Vivian Y. Shin, Cecilia Y. S. Ho, Tsun Leung Chan, Edmond S. K.
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