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Stuart Cantsilieris

Researcher at University of Washington

Publications -  14
Citations -  1730

Stuart Cantsilieris is an academic researcher from University of Washington. The author has contributed to research in topics: Segmental duplication & Copy-number variation. The author has an hindex of 10, co-authored 14 publications receiving 1147 citations. Previous affiliations of Stuart Cantsilieris include University of Melbourne.

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Multi-platform discovery of haplotype-resolved structural variation in human genomes

Mark Chaisson, +107 more
TL;DR: A suite of long-read, short- read, strand-specific sequencing technologies, optical mapping, and variant discovery algorithms are applied to comprehensively analyze three trios to define the full spectrum of human genetic variation in a haplotype-resolved manner.
Journal ArticleDOI

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

TL;DR: The integrated genome and transcriptome assembly technologies suggest an SVA-mediated aberrant transcriptional mechanism associated with XDP and may provide a roadmap for layered technologies and integrated assembly-based analyses for other unsolved Mendelian disorders.