Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

BACKGROUND: For a proportion of individuals judged clinically to have a recessive Mendelian disease, only one heterozygous pathogenic variant can be found from clinical whole exome sequencing (WES), posing a challenge to genetic diagnosis and genetic counseling. One possible reason is the limited ab...

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Detalles Bibliográficos
Autores principales: Miao, Hefan, Zhou, Jiapeng, Yang, Qi, Liang, Fan, Wang, Depeng, Ma, Na, Gao, Bodi, Du, Juan, Lin, Ge, Wang, Kai, Zhang, Qianjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162922/
https://www.ncbi.nlm.nih.gov/pubmed/30279644
http://dx.doi.org/10.1186/s41065-018-0069-1

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