Long-read technologies identify a hidden inverted duplication in a family with choroideremia

Summary: The lack of molecular diagnoses in rare genetic diseases can be explained by limitations of current standard genomic technologies. Upcoming long-read techniques have complementary strengths to overcome these limitations, with a particular strength in identifying structural variants. By usin...

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Egile Nagusiak:	Zeinab Fadaie, Kornelia Neveling, Tuomo Mantere, Ronny Derks, Lonneke Haer-Wigman, Amber den Ouden, Michael Kwint, Luke O’Gorman, Dyon Valkenburg, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Marcel Nelen, Frans P.M. Cremers, Alexander Hoischen, Susanne Roosing
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Elsevier 2021-10-01
Saila:	HGG Advances
Gaiak:	optical genome mapping long-read sequencing choroideremia CHM RNA hairpin structure inverted duplication
Sarrera elektronikoa:	http://www.sciencedirect.com/science/article/pii/S2666247721000270
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