The LOHGIC algorithm is currently being used to analyze tumor sequencing assay results as part of the Rutgers Cancer Institute's precision medicine program.
The researchers uncovered four Tourette disorder risk genes through exome sequencing of parent-child trios, and estimated there could be hundreds more.
The agency is funding genome sequencing and analysis centers to research the genomic basis of common diseases, as well as ongoing rare disease research.
A study in Molecular Cell shows CRISPR-Cas9-like genome editing in human cells and suggests one protein could be an RNA-guided, RNA-cleaving endonuclease.
With the award, the Rutgers University's Human Genetics Institute of New Jersey unit will provide pluripotent stem cell derivation and quality control services.
The new workflow, which was validated across three separate laboratories in New Jersey, is a critical step toward standardizing the use of RNA-seq in clinical genomics.
