linked-read genome sequencing

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome
Karen M Knapp, Rosie Sullivan, Jennie Murray, Gregory Gimenez, Pamela Arn, Precilla D'Souza, Alper Gezdirici, William G Wilson, Andrew P Jackson, Carlos Ferreira, Louise S Bicknell

Journal of Medical Genetics Mar 2020, 57 (3) 195-202; DOI: 10.1136/jmedgenet-2019-106396

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linked-read genome sequencing