Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

@inproceedings{Carss2014ExomeSI,
  title={Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound},
  author={Keren J. Carss and Sarah C. Hillman and Vijaya Parthiban and Dominic J. McMullan and Eamonn R Maher and Mark David Kilby and Matthew E. Hurles},
  booktitle={Human molecular genetics},
  year={2014}
}
The genetic etiology of non-aneuploid fetal structural abnormalities is typically investigated by karyotyping and array-based detection of microscopically detectable rearrangements, and submicroscopic copy-number variants (CNVs), which collectively yield a pathogenic finding in up to 10% of cases. We propose that exome sequencing may substantially increase the identification of underlying etiologies. We performed exome sequencing on a cohort of 30 non-aneuploid fetuses and neonates (along with… CONTINUE READING
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