Transcriptional profiling of a common microdeletion / duplication syndrome

By |2022-10-31T15:34:29-04:00June 8th, 2015|Categories: Announcements, Publication|

We published the first transcriptome sequencing study of a common, recurrent genomic disorder, 16p11.2 microdeletion and duplication.  This reciprocal copy number variant (CNV) syndrome is among the most common known causes of autism, and confers risk to a spectrum of development and psychiatric disorders.  Our study in lymphoblastoid cell lines from human families and cortical [...]