Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses

BACKGROUND: Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into clinical management remain limited in practice. Herein, we report our experience implementing prenatal ES (pES) in a large cohort of fetuses with anom...

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Detalles Bibliográficos
Autores principales: Fu, Fang, Li, Ru, Yu, Qiuxia, Wang, Dan, Deng, Qiong, Li, Lushan, Lei, Tingying, Chen, Guilan, Nie, Zhiqiang, Yang, Xin, Han, Jin, Pan, Min, Zhen, Li, Zhang, Yongling, Jing, Xiangyi, Li, Fucheng, Li, Fatao, Zhang, Lina, Yi, Cuixing, Li, Yingsi, Lu, Yan, Zhou, Hang, Cheng, Ken, Li, Jian, Xiang, Lina, Zhang, Jing, Tang, Sha, Fang, Ping, Li, Dongzhi, Liao, Can
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9615232/
https://www.ncbi.nlm.nih.gov/pubmed/36307859
http://dx.doi.org/10.1186/s13073-022-01130-x

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