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Abnormal foetal development exome trios

ABSTRACT: This project is to explore the contribution of de novo mutations to severe structural malformations diagnosed prenatally using ultrasound. These malformations include heart, CNS, renal and GI abnormalities. In this pilot project we aim to exome sequence 30 parent-foetus trios to ~50X mean coverage and identify de novo functional variants using an algorithm developed in the Hurles group

PROVIDER: EGAS00001000167 | EGA |

REPOSITORIES: EGA

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

Carss Keren J KJ Hillman Sarah C SC Parthiban Vijaya V McMullan Dominic J DJ Maher Eamonn R ER Kilby Mark D MD Hurles Matthew E ME

Human molecular genetics 20140129 12

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 t ...[more]

PMID: 24476948

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