S W Xue
5 Papers
1 Citations
S W Xue is an academic researcher. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 1, co-authored 1 publications.
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Papers
Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders
Ye Cao,HM Luk,Yanyan Zhang,Matthew Hoi Kin Chau,S W Xue,Shirley S W Cheng,A. Li,Josephine S.C. Chong,Tak Yeung Leung,Zirui Dong,Kwong Wai Choy,Ivan F M Lo +11 more
TL;DR: Mate-pair low pass GS resolved a significant proportion of CNVs with inconclusive significance, and detected additional SVs and regions of AOH in patients with undiagnostic neurodevelopmental disorders, which complements the first-tier CNV analysis for NDDs.
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Application of single nucleotide polymorphism array in prenatal diagnosis for fetuses with abnormal ultrasound findings
TL;DR: SNP-array could be a useful genetic analysis method in prenatal diagnosis for fetuses with abnormal ultrasound findings and improve the detection rates for chromosomal abnormalities and find the chromosome abnormalities which can't be detected by conventional karyotyping analysis.
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Mate-pair genome sequencing reveals structural variants for idiopathic male infertility
Zirui Dong,Jicheng Qian,Tracy Sze Man Law,Matthew Hoi Kin Chau,Ye Cao,S W Xue,Steve Tong,Yilin Zhao,Yvonne K. Kwok,Karen Ng,David Yiu Leung Chan,Peter Chiu,Chi-Fai Ng,Cathy Hoi Sze Chung,Jennifer Sze Man Mak,Tak Yeung Leung,Jacqueline Pui Wah Chung,Cynthia C. Morton,Kwong Wai Choy +18 more
TL;DR: In this article , Mate-pair genome sequencing (LPSL) was used to detect clinically significant structural variants (SVs) and copy-number neutral absence of heterozygosity (AOH).
Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting
A. Kwan,Xiaofan Zhu,Maria Mar Gil,Yvonne K. Kwok,Isabella Y.M. Wah,Annie Sy Hui,Yuen Ha Ting,Kwok Ming Law,Doris Sie Chong Lau,S W Xue,Kwong Wai Choy,Daljit Singh Sahota,Tak Yeung Leung,Liona C. Poon +13 more
TL;DR: Limiting the reporting of additional findings from genome-wide cfDNA analysis has reduced the false-positive rate but without a reduction in the no-result rate.
A pilot investigation of low-pass genome sequencing identifying site-specific variation in chromosomal mosaicisms by a multiple site sampling approach in first-trimester miscarriages.
Ying Li,Matthew Hoi Kin Chau,Ying Xin Zhang,Yilin Zhao,S W Xue,Tin-Chiu Li,Ye Cao,Zirui Dong,Kwong Wai Choy,Jacqueline Pui Wah Chung +9 more
TL;DR: In this paper , a cross-sectional cohort study carried out at a university-affiliated public hospital in Hong Kong showed that multiple-site sampling combined with low-pass genome sequencing significantly increased genetic diagnostic yield (77.0%, 127/165) of first-trimester miscarriages, with mosaicisms accounting for 17.0% (28/165), especially heterogeneously distributed mosaicisms (75, 21/28) that are currently underappreciated.