Article
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Genome research - 14 Apr 2025
Steyaert Wouter, Sagath Lydia, Demidov German, Yépez Vicente A, Esteve-Codina Anna, Gagneur Julien, Ellwanger Kornelia, Derks Ronny, Weiss Marjan, den Ouden Amber, van den Heuvel Simone, Swinkels Hilde, Zomer Nick, Steehouwer Marloes, O'Gorman Luke, Astuti Galuh, Neveling Kornelia, Schüle Rebecca, Xu Jishu, Synofzik Matthis, Beijer Danique, Hengel Holger, Schöls Ludger, Claeys Kristl G, Baets Jonathan, Van de Vondel Liedewei, Ferlini Alessandra, Selvatici Rita, Morsy Heba, Saeed Abd Elmaksoud Marwa, Straub Volker, Müller Juliane, Pini Veronica, Perry Luke, Sarkozy Anna, Zaharieva Irina, Muntoni Francesco, Bugiardini Enrico, Polavarapu Kiran, Horvath Rita, Reid Evan, Lochmüller Hanns, Spinazzi Marco, Savarese Marco, Matalonga Leslie, Laurie Steven, Brunner Han G, Graessner Holm, Beltran Sergi, Ossowski Stephan, Vissers Lisenka E L M, Gilissen Christian, Hoischen Alexander
Abstract excerpt
Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilized 10-fold coverage HiFi long-read sequencing (LRS) for detecting causative structural variants (SVs), single-nucleotide variants (SNVs), insertion-deletions (indels), and short tandem repeat (STR) expansions in previously studied RD families without...
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