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Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening

Whole-genome sequencing of preimplantation human embryos to detect and screen for genetic diseases is a technically challenging extension to preconception screening. Combining preconception genetic screening with preimplantation testing of human embryos facilitates the detection of de novo mutations...

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Detalles Bibliográficos
Autores principales: Murphy, Nicholas M., Samarasekera, Tanya S., Macaskill, Lisa, Mullen, Jayne, Rombauts, Luk J. F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052235/
https://www.ncbi.nlm.nih.gov/pubmed/32123222
http://dx.doi.org/10.1038/s41598-020-60704-0