Genetic analysis of short stature using whole exome sequencing

The aim of the study is to find the genetic aetiologies of short stature, using whole-exome sequencing technology.

1 Dataset 1 Publication

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
EGAD50000000825	Whole exome sequencing of two human samples run on the Illumina HiSeq2500 platform. It contains two BAM files aligned to the refrence genoeme GRCh38.		2

Publications	Citations
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction. Maharaj AV, Ishida M, Rybak A, Elfeky R, Andrews A, Joshi A, Elmslie F, Joensuu A, Kantojärvi K, Jia RY, Perry JRB, O'Toole EA, McGuffin LJ, Hwa V, Storr HL. Nat Commun 15: 2024 8420	0