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De novo mutations in cell-free foetal DNA - Pulldown experiment

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.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001000322 Whole Genome Sequencing

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00001235018 bam 2.0 GB
EGAF00001235019 bai 4.5 MB
EGAF00001235020 bam 34.4 GB
EGAF00001235021 bai 6.4 MB
EGAF00001235022 bam 37.1 GB
EGAF00001235023 bai 7.4 MB
EGAF00001235025 bai 7.9 MB
EGAF00001280533 bam 39.9 GB
8 Files (113.4 GB)