Library Generation and Next-Generation Sequencing:
Whole Exome Sequencing:
Yale University
PI: Rick Lifton
The Whole Exome Sequencing Facility sequences specimens received (from cases of congenital heart disease, parents, and affected relatives) to generate sequence data for all protein coding regions by producing genomic libraries and targeted capture-derived whole exome sequences from genomic libraries. Raw DNA sequence data is distributed to PCGC Centers and the PCGC Data Hub.
RNA Transcriptome:
Harvard University
PI: Jon Seidman
The RNA Transcriptome Core produces single cell RNAseq libraries from RNA samples submitted by CvDC investigators and from explanted human cardiac tissues provided by PCGC investigators. Analyses of these single cell transcriptomes will provide important new insights into the developmental mechanisms that lead to cardiac formation.