LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data by Li Fang, Charlly Kao, Michael V. Gonzalez, Fernanda A. Mafra, Renata Pellegrino da Silva, Mingyao Li, Sören-Sebastian Wenzel, Katharina Wimmer, Hakon Hakonarson, Kai Wang

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Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort by Alanna Strong, Meckenzie Behr, Carina Lott, Abigail J. Clark, Frank Mentch, Renata Pellegrino Da Silva, Danielle R. Rux, Robert Campbell, Cara Skraban, Xiang Wang, Jason B. Anari, Benjamin Sinder, Patrick J. Cahill, Patrick Sleiman, Hakon Hakonarson

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Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population. by Nori Matsunami, Dexter Hadley, Charles H Hensel, G Bryce Christensen, Cecilia Kim, Edward Frackelton, Kelly Thomas, Renata Pellegrino da Silva, Jeff Stevens, Lisa Baird, Brith Otterud, Karen Ho, Tena Varvil, Tami Leppert, Christophe G Lambert, Mark Leppert, Hakon Hakonarson

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