Genetics of Microcephalic Osteodysplatics Primordial Dwarfism
|Study ID||Alternative Stable ID||Type|
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
This project aims to find causal variants in 50 patients diagnosed with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD), of presumed recessive inheritance performing whole exome sequencing to ~50x mean depth.This is a collaboration with Prof A. Jackson, MRC Human Genetics Unit, Edinburgh
|Illumina Genome Analyzer II,Illumina HiSeq 2000||66|