Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements

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Eisfeldt J, Ameur A, Lenner F, ten Berk de Boer E, Ek M, Wincent J, Vaz R, Ottosson J, Jonsson T, Ivarsson SE, Thunstrom S, Topa A, Stenberg S, Rohlin A, Sandestig A, Nordling M, Palmebäck P, Burstedt M, Nordin F, Stattin EL, Sobol M, Baliakas P, Bondeson ML, Höijer I, Bilgrav Saether K, Lovmar L, Ehrencrona H, Melin M, Feuk L, Lindstrand A

- - (-) - [2023-12-17; online 2023-12-17]

DOI 10.1101/2023.12.15.23299892

Crossref 10.1101/2023.12.15.23299892