Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma

Autor: Torpong Sanguansermsri, Fiona M.F. Lun, K.C. Allen Chan, Charles R. Cantor, Nancy B.Y. Tsui, Chanane Wanapirak, Tak Yeung Leung, Tze K. Lau, Y.M. Dennis Lo, Katherine C.K. Chow, Pimlak Charoenkwan, Wyatt Y. W. Lo, Rossa W.K. Chiu

Publikováno v: Proceedings of the National Academy of Sciences. 105:19920-19925

Prenatal diagnosis of monogenic diseases, such as cystic fibrosis and β-thalassemia, is currently offered as part of public health programs. However, current methods based on chorionic villus sampling and amniocentesis for obtaining fetal genetic ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2fb3e6974327b41360ff3ddd319f413
https://doi.org/10.1073/pnas.0810373105

Digital PCR for the molecular detection of fetal chromosomal aneuploidy

Autor: Tze K. Lau, Y.M. Dennis Lo, Tak Yeung Leung, Benny Zee, Ka Chun Chong, K.C. Allen Chan, Nancy B.Y. Tsui, Rossa W.K. Chiu, Charles R. Cantor, Fiona M.F. Lun

Publikováno v: Proceedings of the National Academy of Sciences. 104:13116-13121

Trisomy 21 is the most common reason that women opt for prenatal diagnosis. Conventional prenatal diagnostic methods involve the sampling of fetal materials by invasive procedures such as amniocentesis. Screening by ultrasonography and biochemical ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c74611974369bc91e26fae8528c9e41
https://doi.org/10.1073/pnas.0705765104

Methy-Pipe: an integrated bioinformatics pipeline for whole genome bisulfite sequencing data analysis

Autor: Peiyong Jiang, Hao Sun, Fiona M.F. Lun, Y.M. Dennis Lo, Andy M. Guo, Rossa W.K. Chiu, Huating Wang, Kun Sun, K.C. Allen Chan

Publikováno v: PLoS ONE, Vol 9, Iss 6, p e100360 (2014)
PLoS ONE

DNA methylation, one of the most important epigenetic modifications, plays a crucial role in various biological processes. The level of DNA methylation can be measured using whole-genome bisulfite sequencing at single base resolution. However, until

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::634788a09bb737d898425883ad4509e3
http://europepmc.org/articles/PMC4063866?pdf=render

Nonhematopoietically derived DNA is shorter than hematopoietically derived DNA in plasma: a transplantation model

Autor: Hao Sun, Xiaoxi Su, Eric Z. Chen, Yama W. L. Zheng, John Wong, K.C. Allen Chan, Peiyong Jiang, Emily C.W. Hung, Vincent Lee, Fiona M.F. Lun, Y.M. Dennis Lo, Paul B.S. Lai, Chi Kong Li, Rossa W.K. Chiu

Publikováno v: Clinical chemistry. 58(3)

BACKGROUND Plasma DNA is predominantly hematopoietic in origin. The size difference between maternal- and fetal-derived DNA in maternal plasma prompted us to investigate whether there was any discrepancy in molecular size between hematopoietically an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdd2cefea94929dae3f7416e129cedd1
https://pubmed.ncbi.nlm.nih.gov/22235102

Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing

Autor: Sidney K. C. Au-Yeung, Ranjit Akolekar, Ryoko Minekawa, Kypros H. Nicolaides, Yu Y. Kung, Yama W. L. Zheng, Cees B.M. Oudejans, Mary Hoi Yin Tang, Attie T. J. I. Go, John M. G. van Vugt, Rebecca Y. K. Tang, Fiona M.F. Lun, K.C. Allen Chan, Lisa Y.S. Chan, Eric Z. Chen, Peiyong Jiang, Tak Yeung Leung, Rossa W.K. Chiu, Xiuqing Zhang, Y.M. Dennis Lo, Hao Sun, W. C. Leung, William W. K. To, H. Lam, Yongjie Jin, Tze K. Lau, Jun Wang, Elizabeth T. Lau

Publikováno v: Chen, E Z, Chiu, R W K, Sun, H, Akolekar, R, Chan, K C A, Leung, T Y, Jiang, P Y, Zheng, Y W L, Lun, F M F, Chan, L Y S, Jin, Y J, Go, A T J I, Lau, E T, To, W W K, Leung, W C, Tang, R Y K, Au-Yeung, S K C, Lam, H, Kung, Y Y, Zhang, X Q, van Vugt, J M G, Minekawa, R, Tang, M H Y, Wang, J, Oudejans, C B M, Lau, T K, Nicolaides, K H & Lo, Y M D 2011, ' Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing ', PLoS ONE, vol. 6, no. 7, e21791 . https://doi.org/10.1371/journal.pone.0021791
PLoS ONE
PLoS ONE, 6(7):e21791. Public Library of Science
PLoS One, 6
PLoS ONE, Vol 6, Iss 7, p e21791 (2011)
PLoS One, 6, 7

Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1367bab05a0af2574c128e9c13e8c412
https://research.vumc.nl/ws/files/866060/282572.pdf