Article

Identification of rare <i>de novo</i> epigenetic variations in congenital disorders

2018-01-19

Abstract excerpt

Certain human traits such as neurodevelopmental disorders (NDs) and congenital anomalies (CAs) are believed to be primarily genetic in origin. With recent dramatic advances in genomic technologies, genome-wide surveys of cohorts of patients with ND/CAs for point mutations and structural variations have greatly advanced our understanding of their genetic etiologies 1,2 . However, even after whole genome sequencing...

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Literature Corpus work: 011a2883-f9e3-550e-bf6c-aa7d4f8d7322
DOI: 10.1101/250787

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