Article
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
Nature genetics - 1 Jan 2014
Weedon Michael N, Cebola Ines, Patch Ann-Marie, Flanagan Sarah E, De Franco Elisa, Caswell Richard, Rodríguez-Seguí Santiago A, Shaw-Smith Charles, Cho Candy H-H, Allen Hana Lango, Houghton Jayne Al, Roth Christian L, Chen Rongrong, Hussain Khalid, Marsh Phil, Vallier Ludovic, Murray Anna, Ellard Sian, Ferrer Jorge, Hattersley Andrew T
Abstract excerpt
The contribution of cis-regulatory mutations to human disease remains poorly understood. Whole-genome sequencing can identify all noncoding variants, yet the discrimination of causal regulatory mutations represents a formidable challenge. We used epigenomic annotation in human embryonic stem cell (hESC)-derived pancreatic progenitor cells to guide the interpretation of whole-genome sequences from individuals with...
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