Sacral agenesis: A pilot whole exome sequencing and copy number study
R. M. Porsch, E. Merello, P. De Marco, G. Cheng, L. Rodriguez, M. So, P. Sham, P. Tam, V. Carpa, S. Cherny, M.-M. Garcia-Barcelo, D. Campbell
This study uses whole exome sequencing and copy number analysis to identify genetic variants in four CRS trios, finding de novo and inherited mutations in candidate genes and CNVs overlapping with previously reported deletions.
bioRxiv · Jun 13, 2016Pathology