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

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 setting....

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Genome Med
Hlavní autoři: Normand, Elizabeth A., Braxton, Alicia, Nassef, Salma, Ward, Patricia A., Vetrini, Francesco, He, Weimin, Patel, Vipulkumar, Qu, Chunjing, Westerfield, Lauren E., Stover, Samantha, Dharmadhikari, Avinash V., Muzny, Donna M., Gibbs, Richard A., Dai, Hongzheng, Meng, Linyan, Wang, Xia, Xiao, Rui, Liu, Pengfei, Bi, Weimin, Xia, Fan, Walkiewicz, Magdalena, Van den Veyver, Ignatia B., Eng, Christine M., Yang, Yaping
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6162951/
https://ncbi.nlm.nih.gov/pubmed/30266093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-018-0582-x
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky