Category Archives: Books and Writing
The End of MassGenomics
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 […]
Posted by in Books and Writing, Human Genetics, Sequencing Technology
My Second Book Is Out Today
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 […]
Posted by in Books and Writing
Transitions and Excuses
My sincere apologies to the dedicated MassGenomics readers who’ve noticed the recent decline in new posts here. It’s a busy and tumultuous time for our institute. Leadership Transition at MGI For those who missed the announcement earlier this month: our center’s director Rick Wilson and co-director Elaine Mardis announced that they’re leaving to establish a new Institute for […]
Posted by in Books and Writing, Human Genetics
My Worst Kept Secret: The Rogue Retrieval
As you might guess from the hundreds of MassGenomics blog posts over the years, I enjoy writing. It’s a vital skill to scientists, not just for writing grants and papers, but for communicating the achievements (and importance) of science to the general public. The researchers whose work I admire, whose careers are a model for success, […]
Posted by in Books and Writing
Science Fiction: Going Viral
The rapid advance of next-generation sequencing technologies, particularly in the last several years, has almost seemed like something out of a science fiction novel. Think about it: on a HiSeq X Ten instrument, we can sequence a complete human genome in less than a week, at a cost that’s 0.00001% of what it took to […]
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Ten Years and 50 Publications in Big Science
This week at the American Journal of Human Genetics you’ll find a new method for exome-based mapping and rare variant prioritization in Mendelian disorders. The freely-available software package, MendelScan, is designed to help researchers score and prioritize candidate variants in family exome sequencing studies of Mendelian disease. It’s my 50th research publication, and since I’m […]
Posted by in Books and Writing, Cancer Genomics, Human Genetics