Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

MATERIAL: Linked-read whole genome sequencing (WGS) presents a new opportunity for cost-efficient singleton sequencing in place of traditional trio-based designs while generating informative-phased variants, effective for recessive disorders when parental DNA is unavailable. METHODS: We have applied...

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Detalles Bibliográficos
Autores principales: Knapp, Karen M, Sullivan, Rosie, Murray, Jennie, Gimenez, Gregory, Arn, Pamela, D'Souza, Precilla, Gezdirici, Alper, Wilson, William G, Jackson, Andrew P, Ferreira, Carlos, Bicknell, Louise S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Novel Disease Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042968/
https://www.ncbi.nlm.nih.gov/pubmed/31784481
http://dx.doi.org/10.1136/jmedgenet-2019-106396

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042968/
https://www.ncbi.nlm.nih.gov/pubmed/31784481
http://dx.doi.org/10.1136/jmedgenet-2019-106396

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