News and insights

Subscribe to our newsletter

Chasing mutations in the coding regions of genes associated with disease is one thing; chasing noncoding or regulatory mutations is another. For a study published last week in the , a team led by Vijay Sankaran, Aoi Wakabayashi, and Jacob Ulirsch of Boston Children’s Hospital, Dana-Farber Cancer Institute, and Ó³»­´«Ã½ used CRISPR genome editing to probe rare mutations — all in noncoding DNA — linked to three red blood cell diseases. Their findings reveal new insights into the intricate dance of transcription factors involved in red blood cell development, and provide a framework for studying the functional changes wrought by mutations in noncoding stretches of the genome.

GP Platform

At the Ó³»­´«Ã½ of MIT and Harvard we generate a lot of data. We also develop the cutting-edge software tools researchers need to find signals in the noise. We are committed to sharing tools and data openly with the entire scientific community, and have dedicated a team to constantly improve our Genome Analysis Toolkit (GATK), which is the software package we developed for analysis of high-throughput sequencing data.