Study

Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS).

Study ID Alternative Stable ID Type
EGAS00001002193 Other

Study Description

The datasets includes 21 samples from 7 families with Bosma arhinia microphthalmia (BAMS). For details of the study please refer to the manuscript "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development", Nature Genetics 2017. Each sample was exome sequenced and the family ID in sample description refers to the Individual ID in Supplementary figure 2 of the manuscript.

Study Datasets 1 dataset.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001003130
Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS). The dataset includes 21 samples from 7 families with BAMS; see Gordon et al, Nature Genetics, 2017.
Illumina HiSeq 2500,Illumina HiSeq 4000 21

Who archives the data?

Publications

Citations

Retrieving...
Retrieving...