Thank you to everyone who sent kind messages after I announced the end of MassGenomics earlier this month. Please rest assured that this website and all of its articles will remain online for the foreseeable future. Also, I have an important announcement. Today is Rare Disease Day, an annual event that aims to raise awareness ..read more

I started MassGenomics ten years ago, when so-called next-generation sequencing was still in its infancy. I’d joined the Genome Sequencing Center at Washington University, fulfilling a dream I had since high school. At the time, two NGS technologies had begun to emerge: 454 pyrosequencing and Solexa sequencing-by-synthesis. Over the next several years, Solexa was acquired ..read more

In September of this year, genetic counselors from all over the United States descended on Columbus for the annual meeting of NSGC, the National Society of Genetic Counselors. One of the major outcomes of that meeting was the announcement that November 9th (today) would be Genetic Counselor Awareness Day. I’m not a genetic counselor, nor ..read more

I’m back and nearly recovered from the American Society of Human Genetics meeting in Orlando, Florida. The conference was well-covered on the #ASHG17 hashtag as usual, but I also compiled detailed notes that I’ll share here. The obvious theme of this meeting, from my point of view, was the rise of clinical genome sequencing in ..read more

This week I’ll be at the American Society of Human Genetics annual meeting in Orlando, Florida. This meeting is the largest gathering of human genetics professionals (over 7,000 attendees) and offers, in my opinion, one of the best educational opportunities for our field. One reason it’s so valuable is simply the diversity of scientific content ..read more

I’m an avid supporter of large-scale genomics studies, which have yielded some of the most important resources in human genetics and cancer genomics. With my new focus on inherited disorders that affect children, I have a new appreciation for initiatives that tackle not-so-common diseases. One such effort is the UK-based Deciphering Developmental Disorders (DDD) study, which ..read more

The adoption of exome and whole genome sequencing as frontline genetic tests has definitively proven to increase the speed and success rate of molecular diagnosis. These improvements should not only help end the diagnostic odyssey for many patients, but also allow faster intervention and genome‐informed clinical care. Yet the task of interpreting exome‐ or genome‐wide ..read more

Next-generation sequencing technologies have transformed the way we study rare genetic disorders. Exome sequencing for Mendelian disease is the poster child for success in this arena. However, despite the frenzied pace of disease gene discovery and the growth of public sequence databases, the diagnostic/success rates for exome sequencing have remained somewhat constant over the past several years ..read more

Exome sequencing continues to displace traditional panel-based approaches to genetic diagnosis. The maturity and efficiency of current exome kits, together with the ever-moving target of bona fide disease genes, make a strong argument for sequencing the exons of all genes, rather than the ones currently known to be associated with a specific phenotype. Indeed, many clinical laboratories ..read more

I started MassGenomics in 2008 out of a desire to share my experiences with next-gen sequencing, which was still a relatively new technology. At around the same time, I began to experiment with writing science fiction. I’ll be honest: it does not come nearly as easily as blogging or writing nonfiction, at least for me. But I ..read more