A5005665172- Prenatal Screening and Diagnostics
- Cancer Genomics and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Parvovirus B19 Infection Studies
- Pancreatic and Hepatic Oncology Research
- Viral-associated cancers and disorders
- Genetic factors in colorectal cancer
- Epigenetics and DNA Methylation
- Renal and related cancers
- Head and Neck Cancer Studies
- Genomic variations and chromosomal abnormalities
- Molecular Biology Techniques and Applications
- Cholangiocarcinoma and Gallbladder Cancer Studies
- SARS-CoV-2 and COVID-19 Research
- RNA modifications and cancer
- Pregnancy and preeclampsia studies
- Lymphoma Diagnosis and Treatment
- Cancer-related molecular mechanisms research
- Congenital Anomalies and Fetal Surgery
- Single-cell and spatial transcriptomics
- Animal Virus Infections Studies
- COVID-19 Clinical Research Studies
- Viral gastroenteritis research and epidemiology
- Tumors and Oncological Cases
- Cancer-related gene regulation
Prince of Wales Hospital
2016-2025
Chinese University of Hong Kong
2016-2025
Hong Kong Science and Technology Parks Corporation
2021-2025
John Wiley & Sons (United Kingdom)
2019
Hudson Institute
2019
National University Cancer Institute, Singapore
2018
Johns Hopkins University
2018
National Cancer Centre Singapore
2018
Tuen Mun Hospital
2018
Pamela Youde Nethersole Eastern Hospital
2018
Sequencing plasma DNA from a pregnant woman permits genome-wide scanning for the mutational status of fetus prenatally and noninvasively.
Chromosomal aneuploidy is the major reason why couples opt for prenatal diagnosis. Current methods definitive diagnosis rely on invasive procedures, such as chorionic villus sampling and amniocentesis, are associated with a risk of fetal miscarriage. Fetal DNA has been found in maternal plasma but exists minor fraction among high background DNA. Hence, quantitative perturbations caused by an aneuploid chromosome genome to overall representation sequences from that would be small. Even highly...
The discovery of circulating fetal nucleic acids in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. MicroRNAs (miRNAs), a class small RNAs, have been intensely investigated recently because their important regulatory role gene expression. Because placental origin are released into plasma, we hypothesized that miRNAs produced by the placenta would also be plasma.We systematically searched to identify were at high concentrations placentas compared with blood...
Sixty-one SARS coronavirus genomic sequences derived from the early, middle, and late phases of severe acute respiratory syndrome (SARS) epidemic were analyzed together with two viral palm civets. Genotypes characteristic each phase discovered, earliest genotypes similar to animal SARS-like coronaviruses. Major deletions observed in Orf8 region genome, both at start end epidemic. The neutral mutation rate genome was constant but amino acid substitution coding slowed during course spike...
To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk pregnancies clinically indicated amniocentesis or chorionic villus sampling.Diagnostic accuracy validated against full karyotyping, using prospectively collected archived samples.Prenatal diagnostic units in Hong Kong, United Kingdom, Netherlands.753 pregnant women at who underwent definitive diagnosis by whom 86 had a fetus with 21....
Significance Plasma consists of DNA released from multiple tissues within the body. Using genome-wide bisulfite sequencing plasma DNA, we obtained a bird’s eye view identities and contributions these to circulating pool. The tissue contributors their relative proportions are identified by bioinformatics deconvolution process that draws reference methylation signatures representative each type. We validated this approach in pregnant women, cancer patients, transplant recipients. This method...
Circulating cell-free Epstein-Barr virus (EBV) DNA is a biomarker for nasopharyngeal carcinoma. We conducted prospective study to investigate whether EBV in plasma samples would be useful screen early carcinoma asymptomatic persons.We analyzed specimens participants who did not have symptoms of Participants with initially positive results were retested approximately 4 weeks later, and those persistently underwent nasal endoscopic examination magnetic resonance imaging (MRI).A total 20,174...
Significance We used massively parallel sequencing to study the size profiles of plasma DNA samples at single-base resolution and in a genome-wide manner. chromosome arm-level z -score analysis (CAZA) identify tumor-derived for studying their specific profiles. showed that populations aberrantly short long molecules existed patients with hepatocellular carcinoma. The ones preferentially carried tumor-associated copy number aberrations. further there were elevated amounts mitochondrial...
The discovery of fetal DNA in maternal plasma has opened up an approach for noninvasive prenatal diagnosis. Despite the rapid expansion clinical applications, molecular characteristics pregnant women remain unclear.We investigated size distribution 34 nonpregnant and 31 women, using a panel quantitative PCR assays with different amplicon sizes targeting leptin gene. We also determined by SRY gene.The median percentages >201 bp were 57% 14% respectively (P <0.001, Mann-Whitney test)....
Abstract Background: There is much recent interest in the biologic and diagnostic implication of cell-free non-host DNA plasma serum human subjects. To determine if quantitative abnormalities circulating may be associated with certain pathologic processes, we used fetal preeclampsia as a model system. Methods: We studied 20 preeclamptic women control subjects comparable gestational age (means, 32 33 weeks, respectively). Male maternal was measured using real-time PCR for SRY gene on Y...
The precise measurement of cell-free fetal DNA in maternal plasma facilitates noninvasive prenatal diagnosis chromosomal aneuploidies and other applications. We tested the hypothesis that microfluidics digital PCR, which individual fetal-DNA molecules are counted, could enhance precision measuring circulating DNA.We first determined whether real-time mass spectrometry produced different estimates male-DNA concentrations artificial mixtures male female DNA. then focused on comparing...
Trisomy 21 is the most common reason that women opt for prenatal diagnosis. Conventional diagnostic methods involve sampling of fetal materials by invasive procedures such as amniocentesis. Screening ultrasonography and biochemical markers have been used to risk-stratify pregnant before definitive procedures. However, these screening generally target epiphenomena, nuchal translucency, associated with trisomy 21. It would be ideal if noninvasive genetic were available direct detection core...
Significance Genome-wide hypomethylation is frequently observed in cancers. In this study, we showed that genome-wide analysis plasma using shotgun massively parallel bisulfite sequencing a powerful general approach for the detection of multiple types This particularly attractive because high sensitivity and specificity can be achieved low sequence depth, which practical diagnostically. also used monitoring patients following treatment. The same data further detecting cancer-associated copy...
The discovery of circulating fetal nucleic acid in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. Thus far, a gender- and polymorphism-independent fetal-specific target that can be used screening monitoring all pregnant women not been reported. In addition, the origin such remained unclear. Here we provide direct evidence placenta is an important source release into by demonstrating mRNA transcripts from placenta-expressed genes are readily detectable...
Abstract Purpose: We aim to develop a digital PCR-based method for the quantitative detection of two common epidermal growth factor receptor (EGFR) mutations (in-frame deletion at exon 19 and L858R 21) in plasma tumor tissues patients suffering from non-small cell lung cancers. These account &gt;85% clinically important EGFR associated with responsiveness tyrosine kinase inhibitors. Experimental Design: DNA samples were analyzed using microfluidics system that simultaneously performed...
Purpose This multinational study evaluated the antitumor activity of nivolumab in nasopharyngeal carcinoma (NPC). Tumor and plasma-based biomarkers were investigated an exploratory analysis. Patients Methods with multiply pretreated recurrent or metastatic NPC treated until disease progression. The primary end point was objective response rate (ORR) secondary points included survival toxicity. expression programmed death-ligand 1 (PD-L1) human leukocyte antigens A B archived tumors plasma...
Purpose To evaluate the effect of combining circulating Epstein-Barr viral (EBV) DNA load data with TNM staging in pretherapy prognostication nasopharyngeal carcinoma (NPC). Patients and Methods Three hundred seventy-six patients all stages NPC were studied. Pretreatment plasma/serum EBV concentrations quantified by a polymerase chain reaction assay. Determinants overall survival assessed multivariate analysis. Survival probabilities patient groups, segregated clinical stage (I, II, III, or...
Prenatal diagnosis of monogenic diseases, such as cystic fibrosis and β-thalassemia, is currently offered part public health programs. However, current methods based on chorionic villus sampling amniocentesis for obtaining fetal genetic material pose a risk to the fetus. Since discovery cell-free DNA in maternal plasma, noninvasive prenatal assessment paternally inherited traits or mutations has been achieved. Due presence background DNA, which interferes with analysis maternally not...