To Seq, or Not to Seq

Seq—shorthand for “sequence”— has become a more recognizable term thanks to a novel and provocative genomics initiative called the BabySeq Project. The project, officially launched in May 2015, was designed to explore the impact of whole-exome sequencing (WES) on newborn infants and their families. A randomized, controlled trial to sequence healthy and sick infants and then provide sequencing information, it is the first of its kind. Those infants randomized to receive WES undergo genetic sequencing of all protein-coding genes and analysis of about 1,700 genes implicated in childhood health, along with 18 years of follow up genetic counseling.29813751-nov-2-blog-post-nicole-600x470-web

The project is directed by Robert C. Green, geneticist and physician at Brigham and Women’s Hospital, Harvard Medical School and the Broad Institute, and Alan H. Beggs of Boston Children’s Hospital and Harvard Medical School. Funding, totaling $25 million, comes from the National Institute of Child Health and Development and the National Human Genome Research Institute. Continue reading “To Seq, or Not to Seq”

American Society for Human Genetics Meeting

To everyone who stopped by the Promega booth at the ASHG meeting last week, thank you! We had some great conversations about science, life in the lab, and the projects you are all working on. I enjoy this meeting every year. I enjoy speaking with the graduate students, the post-docs, the clinicians, bioinformaticians, and genetic counselors. I did not have a chance to go to any of the talks this year, but the discussions that happened within the Promega booth were fascinating! It is heartening to see the tools that Promega provides helping scientists to unravel some mysteries about the human genome and human disease. I am proud to be a collaborator in this effort, and I look forward to next year’s meeting. The next chapter of each of your research stories will be, no doubt, as interesting as the last.