DAC for study De novo mutations in cell free foetal DNA

Dac ID Contact Person Email Access Information
EGAC00001000113 Tim Hubbard (wtsidata) wtsidata1 [at] sanger [dot] ac [dot] uk No additional information is available

This DAC controls 1 dataset:

Dataset ID Description Technology Samples
EGAD00001002265 A pulldown experiment with Agilent SureSelect probes designed on regions that were more likely to contain de novo mutations. 266 candidate sites were selected based on whole genome sequencing data. The probes also included the exons of genes that have been identified as neurodevelopmental disorder genes in DDD (the DDG2P genes) 1,336 targets. In addition, the design included the standard iPLEX sites. 4