Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

Abstract Background Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has been more limited. One reason for this is the paucity of information about the clinical utility of exome sequencing in the prenatal s...

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Bibliographic Details
Main Authors: Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E. Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang
Format: Article
Language:English
Published: BMC 2018-09-01
Series:Genome Medicine
Subjects:
Fetal structural abnormalities
Exome sequencing
Prenatal
Single-gene disorder
Mendelian disease
Online Access:http://link.springer.com/article/10.1186/s13073-018-0582-x

Internet

http://link.springer.com/article/10.1186/s13073-018-0582-x

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