Article
Long-read trio sequencing of individuals with unsolved intellectual disability.
European journal of human genetics : EJHG - 1 Apr 2021
Pauper Marc, Kucuk Erdi, Wenger Aaron M, Chakraborty Shreyasee, Baybayan Primo, Kwint Michael, van der Sanden Bart, Nelen Marcel R, Derks Ronny, Brunner Han G, Hoischen Alexander, Vissers Lisenka E L M, Gilissen Christian
Abstract excerpt
Long-read sequencing (LRS) has the potential to comprehensively identify all medically relevant genome variation, including variation commonly missed by short-read sequencing (SRS) approaches. To determine this potential, we performed LRS around 15×-40× genome coverage using the Pacific Biosciences Sequel I System for five trios. The respective probands were diagnosed with intellectual disability (ID) whose...
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