Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis

AIM: Families with an adverse history of monogenic disease focus on single‐gene diagnosis instead of low‐depth whole‐genome sequence, during subsequent pregnancies. The aim of this study was to assess the potential usefulness of low‐depth whole‐genome sequencing (copy number variant sequencing [CNV‐...

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Detalles Bibliográficos
Autores principales: Shi, Panlai, Xia, Yanjie, Li, Qianqian, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons Australia, Ltd 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7986431/
https://www.ncbi.nlm.nih.gov/pubmed/33474820
http://dx.doi.org/10.1111/jog.14627

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7986431/
https://www.ncbi.nlm.nih.gov/pubmed/33474820
http://dx.doi.org/10.1111/jog.14627

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