Need Help?

De novo mutations in cell-free foetal DNA (cffDNA)

This project is to develop and validate a method to detect de novo mutations in a foetal genome through deep sequencing of cell-free DNA from the plasma of pregnant women. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see

Request Access

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
EGAF00000163594 bam 27.4 GB
EGAF00000168174 bam 31.0 GB
EGAF00000168175 bam 31.0 GB
EGAF00000168176 bam 31.5 GB
EGAF00000169595 bam 14.0 GB
EGAF00000181226 bam 13.7 GB
EGAF00000181227 bam 13.9 GB
EGAF00000181228 bam 16.9 GB
EGAF00000181229 bam 17.2 GB
EGAF00000181230 bam 16.8 GB
EGAF00000181231 bam 17.1 GB
EGAF00000181232 bam 16.7 GB
EGAF00000181233 bam 17.0 GB
EGAF00000181234 bam 16.8 GB
EGAF00000181235 bam 17.2 GB
EGAF00000181236 bam 17.0 GB
EGAF00000181237 bam 17.4 GB
EGAF00000181238 bam 17.0 GB
EGAF00000181239 bam 17.3 GB
EGAF00000584793 bam 39.7 GB
20 Files (406.5 GB)