Genome sequencing as a generic diagnostic strategy for rare disease

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Authors: Schobers G, Derks R, den Ouden A, Swinkels H, van Reeuwijk J, Bosgoed E, Lugtenberg D, Sun SM, Corominas Galbany J, Weiss M, Blok MJ, Olde Keizer RACM, Hofste T, Hellebrekers D, de Leeuw N, Stegmann A, Kamsteeg EJ, Paulussen ADC, Ligtenberg MJL, Bradley XZ, Peden J, Gutierrez A, Pullen A, Payne T, Gilissen C, van den Wijngaard A, Brunner HG, Nelen M, Yntema HG, Vissers LELM.

Journal title: Genome Medicine

Journal number: Volume 16, Issue 1

Journal publisher: BioMed Central

Published year: 2024

DOI identifier: 10.1186/s13073-024-01301-y

ISSN: 1756-994X