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  1. Article

    Open Access

    A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

    Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the majority of studies provide neither a global view of ...

    Jayne Y. Hehir-Kwa, Tobias Marschall, Wigard P. Kloosterman… in Nature Communications (2016)

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  2. Article

    Open Access

    Mobster: accurate detection of mobile element insertions in next generation sequencing data

    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 d...

    Djie Tjwan Thung, Joep de Ligt, Lisenka EM Vissers, Marloes Steehouwer… in Genome Biology (2014)

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  3. No Access

    Article

    Genome sequencing identifies major causes of severe intellectual disability

    Whole-genome sequencing is used to identify genetic alterations in patients with severe intellectual disability for whom all other tests, including array and exome sequencing, returned negative results; de novo s...

    Christian Gilissen, Jayne Y. Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst… in Nature (2014)