Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Djie Tjwan Thung"'
Autor:
Jayne Y. Hehir-Kwa, Tobias Marschall, Wigard P. Kloosterman, Laurent C. Francioli, Jasmijn A. Baaijens, Louis J. Dijkstra, Abdel Abdellaoui, Vyacheslav Koval, Djie Tjwan Thung, René Wardenaar, Ivo Renkens, Bradley P. Coe, Patrick Deelen, Joep de Ligt, Eric-Wubbo Lameijer, Freerk van Dijk, Fereydoun Hormozdiari, The Genome of the Netherlands Consortium, André G. Uitterlinden, Cornelia M. van Duijn, Evan E. Eichler, Paul I. W. de Bakker, Morris A. Swertz, Cisca Wijmenga, Gert-Jan B. van Ommen, P. Eline Slagboom, Dorret I. Boomsma, Alexander Schönhuth, Kai Ye, Victor Guryev
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
Structural variants (SVs) are prevalent in genomes of the general population. Here, Guryev and The Genome of the Netherlands Consortium describe the reference panel of haplotype-resolved SVs from 769 individuals from 250 Dutch families and show its u
Externí odkaz:
https://doaj.org/article/cc53ee49aa484f2a8f1598343fa7c306
Autor:
Alwin Rikken, Bart van Lier, Dimitra Zafeiropoulou, Alexander Hoischen, Ivo B J F Adan, Ronny Derks, Marcel R. Nelen, Stijn M M Bertens, Kornelia Neveling, Djie Tjwan Thung, Marloes Steehouwer, Michael Kwint, Jay Shendure, Hicham Ouchene, Evan A. Boyle, Arjen R. Mensenkamp, Jayne Y. Hehir-Kwa, Stefan H. Lelieveld, Tomasz Stokowy, Steven Castelein, Tom Hofste, Per M. Knappskog, Astrid Eijkelenboom, Beth Martin, Ermanno A.J. Bosgoed, Vidar M. Steen, Helger G. Yntema, Marjolijn J. L. Ligtenberg, Bastiaan B J Tops, Hildegunn Høberg-Vetti, Marloes Tychon
Publikováno v:
Clinical Chemistry, 63, 503-512
Clinical Chemistry, 63(2), 503-512. American Association for Clinical Chemistry Inc.
Clinical Chemistry, 63, 2, pp. 503-512
Clinical Chemistry, 63(2), 503-512. American Association for Clinical Chemistry Inc.
Clinical Chemistry, 63, 2, pp. 503-512
BACKGROUND Despite advances in next generation DNA sequencing (NGS), NGS-based single gene tests for diagnostic purposes require improvements in terms of completeness, quality, speed, and cost. Single-molecule molecular inversion probes (smMIPs) are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff362a16b1977a0fc949eda67975675
https://doi.org/10.1373/clinchem.2016.263897
https://doi.org/10.1373/clinchem.2016.263897
Autor:
Kornelia, Neveling, Djie, Tjwan Thung, Lean, Beulen, Wendy, van Rens-Buijsman, Ingrid, Gomes, Simone, van den Heuvel, Hanneke, Mieloo, Irma, Derks-Prinsen, Ellen, Kater-Baats, Brigitte H W, Faas
Publikováno v:
Prenatal diagnosis. 36(3)
To validate Illumina's two-channel NextSeq 500 sequencing system for noninvasive prenatal testing (NIPT) of fetal whole chromosome and partial aberrations.A total of 162 plasma samples, previously sequenced for NIPT on a SOLiD 5500xl platform, were s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f7b781f34f64ddb38c1f73c30f32ecb4
https://pubmed.ncbi.nlm.nih.gov/26774010
https://pubmed.ncbi.nlm.nih.gov/26774010
Publikováno v:
Expert Review of Molecular Diagnostics, 15, 111-24
Expert Review of Molecular Diagnostics, 15, 1, pp. 111-24
Expert Review of Molecular Diagnostics, 15, 1, pp. 111-24
Contains fulltext : 153103.pdf (Publisher’s version ) (Closed access) Noninvasive prenatal testing (NIPT) for fetal aneuploidies using cell-free fetal DNA in maternal plasma has revolutionized the field of prenatal care and methods using massively
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d932a490be06bdfed097b7a75b27573b
http://hdl.handle.net/2066/153103
http://hdl.handle.net/2066/153103
Autor:
Eric-Wubbo Lameijer, Djie Tjwan Thung, Jayne Y. Hehir-Kwa, Joost N. Kok, Kai Ye, M. Kroon, P.E. Slagboom, N. Lakenberg
Publikováno v:
BIOINFORMATICS
Bioinformatics, 32(4), 505-510
BIOINFORMATICS, 32(4), 505-510
Bioinformatics, 32(4), 505-510
BIOINFORMATICS, 32(4), 505-510
Motivation: Dispersed duplications (DDs) such as transposon element insertions and copy number variations are ubiquitous in the human genome. They have attracted the interest of biologists as well as medical researchers due to their role in both evol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb4183229bc66053ca47a20e9ef7e650
http://hdl.handle.net/1887/3197038
http://hdl.handle.net/1887/3197038
Autor:
Robert C. Klein, Annette Schenck, Rolph Pfundt, Christian Gilissen, Jayne Y. Hehir-Kwa, Helger G. Yntema, Richard Leach, Michael Kwint, Alexander Hoischen, Djie Tjwan Thung, Marjolein H. Willemsen, Rick Tearle, Han G. Brunner, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Bregje W.M. van Bon, Maartje van de Vorst, Irene M. Janssen, Bert B.A. de Vries, Tan Bo, Joris A. Veltman
Publikováno v:
Nature, 511(7509), 344-+. Nature Publishing Group
Nature
Nature, 511, 7509, pp. 344-7
Nature, 511, 344-7
Nature
Nature, 511, 7509, pp. 344-7
Nature, 511, 344-7
Contains fulltext : 138095.pdf (Publisher’s version ) (Open Access) Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely genetic in origin. The extensive genetic heterogeneity of this disorder requires a genom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03e6a0683f86a3b3b9919d4b766bd29f
https://pubmed.ncbi.nlm.nih.gov/24896178
https://pubmed.ncbi.nlm.nih.gov/24896178
Autor:
Joris A. Veltman, Jayne Y. Hehir-Kwa, Marloes Steehouwer, Djie Tjwan Thung, Kai Ye, Mark Kroon, Joep de Ligt, Eline Slagboom, Lisenka E M Vissers, Petra de Vries
Publikováno v:
Genome Biology
Genome Biology, 15(10)
Genome Biology, 15(10)
Mobile elements are major drivers in changing genomic architecture and can cause disease. The detection of mobile elements is hindered due to the low mappability of their highly repetitive sequences. We have developed an algorithm, called Mobster, to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f5d86014a9747cf3c224b9f2fd110d
https://pubmed.ncbi.nlm.nih.gov/25348035
https://pubmed.ncbi.nlm.nih.gov/25348035
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