D
Djie Tjwan Thung
Researcher at Radboud University Nijmegen
Publications - 8
Citations - 1406
Djie Tjwan Thung is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Copy-number variation & Genome. The author has an hindex of 7, co-authored 8 publications receiving 1214 citations.
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Journal ArticleDOI
Genome sequencing identifies major causes of severe intellectual disability
Christian Gilissen,Jayne Y. Hehir-Kwa,Djie Tjwan Thung,Maartje van de Vorst,Bregje W.M. van Bon,Marjolein H. Willemsen,Michael Kwint,Irene M. Janssen,Alexander Hoischen,Annette Schenck,Richard Leach,Robert C. Klein,Rick Tearle,Tan Bo,Rolph Pfundt,Helger G. Yntema,Bert B.A. de Vries,Tjitske Kleefstra,Han G. Brunner,Lisenka E.L.M. Vissers,Joris A. Veltman +20 more
TL;DR: Genome sequencing can be applied as a single genetic test to reliably identify and characterize the comprehensive spectrum of genetic variation, providing a genetic diagnosis in the majority of patients with severe ID.
Journal ArticleDOI
Characteristics of de novo structural changes in the human genome
Wigard P. Kloosterman,Laurent C. Francioli,Tobias Marschall,Jayne Y. Hehir-Kwa,Abdel Abdellaoui,Eric-Wubbo Lameijer,Matthijs Moed,Vyacheslav Koval,Ivo Renkens,Markus J. van Roosmalen,Pascal P. Arp,Lennart C. Karssen,Bradley P. Coe,Robert E. Handsaker,E. Suchiman,Edwin Cuppen,Djie Tjwan Thung,Mitch McVey,Michael C. Wendl,Cornelia M. van Duijn,Morris A. Swertz,Gert-Jan B. van Ommen,P. Eline Slagboom,Dorret I. Boomsma,Alexander Schönhuth,Evan E. Eichler,Victor Guryev +26 more
TL;DR: In this article, the authors report 332 validated de novo structural changes identified in whole genomes of 250 families, including complex indels, retrotransposon insertions, and interchromosomal events.
Journal ArticleDOI
Mobster: accurate detection of mobile element insertions in next generation sequencing data
Djie Tjwan Thung,Joep de Ligt,Lisenka E M Vissers,Marloes Steehouwer,Mark Kroon,Petra de Vries,Eline Slagboom,Kai Ye,Joris A. Veltman,Jayne Y. Hehir-Kwa +9 more
TL;DR: An algorithm, called Mobster, is developed, to detect non-reference mobile element insertions in next generation sequencing data from both whole genome and whole exome studies.
Journal ArticleDOI
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
Jayne Y. Hehir-Kwa,Tobias Marschall,Wigard P. Kloosterman,Laurent C. Francioli,Jasmijn A. Baaijens,Louis Dijkstra,Abdel Abdellaoui,Vyacheslav Koval,Djie Tjwan Thung,René Wardenaar,René Wardenaar,Ivo Renkens,Bradley P. Coe,Patrick Deelen,Joep de Ligt,Eric-Wubbo Lameijer,Freerk van Dijk,Fereydoun Hormozdiari,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,Kai Ye,Victor Guryev +30 more
TL;DR: This work analyses whole genome sequencing data of 769 individuals from 250 Dutch families, and provides a haplotype-resolved map of 1.9 million genome variants across 9 different variant classes, including novel forms of complex indels, and retrotransposition-mediated insertions of mobile elements and processed RNAs.
Journal ArticleDOI
BRCA testing by single-molecule molecular inversion probes
Kornelia Neveling,Arjen R. Mensenkamp,Ronny Derks,Michael Kwint,Hicham Ouchene,Marloes Steehouwer,Bart van Lier,Ermanno A.J. Bosgoed,Alwin Rikken,Marloes Tychon,Dimitra Zafeiropoulou,Steven Castelein,Jayne Y. Hehir-Kwa,Djie Tjwan Thung,Tom Hofste,Stefan H. Lelieveld,Stijn M M Bertens,Ivo B J F Adan,Astrid Eijkelenboom,Bastiaan B J Tops,Helger G. Yntema,Tomasz Stokowy,Per M. Knappskog,Hildegunn Høberg-Vetti,Vidar M. Steen,Vidar M. Steen,Evan A. Boyle,Beth Martin,Marjolijn J. L. Ligtenberg,Jay Shendure,Marcel R. Nelen,Alexander Hoischen +31 more
TL;DR: SmMIP-based genetic testing enables automated and reliable analysis of the coding sequences of BRCA1 and BRCa2 and results in a robust process and reduces routine turnaround times.