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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2021-10-01
Series:HGG Advances
Subjects:
optical genome mapping
long-read sequencing
choroideremia
CHM
RNA hairpin structure
inverted duplication
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247721000270

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http://www.sciencedirect.com/science/article/pii/S2666247721000270

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