Structural variation in genomics is a challenging task. To detect inversions, large deletions (by ‘large’ this is generally defined to be anything more than 50 bases or so), large insertions, and translocations in the genome takes a lot of creative alignment algorithms and hard work. Also you need to orthogonally verify each variant call, a … Read more
This year for the first time in three years the annual Advances in Genome Biology and Technology conference (#AGBT19) will be held back in Marco Island Florida, where it traditionally was held for many years. Those not familiar with AGBT, it is a specialty conference that began in the 1990’s during the run-up to the … Read more
Pharmacogenetics, cancer genetics, cardiac genetics, WGS… AI-aided genetic counseling for healthcare organizations and genetic testing companies Artificial Intelligence (AI) is gaining in the popular consciousness. Last week, the White House announced The American AI Initiative with new investment, government AI R&D resources opened up, establishing AI governance and emphasizing education and training. Perhaps by coincidence … Read more
Here at the American Society for Human Genetics (#ASHG18) it has been several years since I’ve attended. The exhibit hall is as large as ever, plenty of new firms in DTC (Direct To Consumer) genomics, bioinformatics, and other technical feats are out in full-force. The new Singlera website is now live. What has been fun … Read more
Announcing a big move for Dale affecting his family, his employer, his colleagues, and his friends Note: This article originally appeared on LinkedIn. The magic wand of early detection Several years ago at a meeting with sales management, someone asked a provocative question: “If you had a magic wand, what would you ask for?” If … Read more
Can a graphene biosensor company like Cardea Biosciences play a role in making P4 medicine (predictive, preventive, personalized and participatory medicine) a reality? Lee Hood’s vision for P4 medicine It was about six years ago I attended a Personalized Healthcare conference at Virginia Commonwealth University in Richmond Virginia, where Leroy Hood of the Institute of … Read more
Two Pore Guys (2PG) has come a long way in a little over 18 months Background of Two Pore Guys At the recent Next Generation Diagnostics Conference in Washington DC (#NGDx18) Two Pore Guys had a nice exhibit where I had the privilege of meeting Tyler Shropshire Ph.D., their Sr. Scientific Manager of R&D. It … Read more
It is something of a tradition for me to give some reviews of notable presentations from past AACR conferences. For example, here’s one that I did while at SeraCare for #AACR16, here’s one from #AACR15, and another one here from #AACR14. (Briefly looking for highlights from 2017, well it looks like something is remiss!) I’ve had … Read more
It has been almost five years since I wrote this post about Bionano Genomics and OpGen, and tools to look at structural variation. At that time OpGen was mapping bacterial genomes and Bionano Genomics would do insect genomes (about 100x as large), and the open question at that time was whether these technologies could scale … Read more
During the flurry of activity at the recent Advances in Genome Biology and Technology, I made it a point to take a close look at the newest CMOS-based NGS instrument from Illumina, called the iSeq 100. And it’s a good time to get a little perspective where next-generation sequencing has come from, and in a … Read more
Background Back in 1989 in Belgrade Yugoslavia, Radoje Drmanac had an idea that would shape the next decade of genetic analysis, which was being able to sequence megabases of DNA information by a collection of 11-mers to 20-mers. Doing the mathematical calculations, this paper lays out what kind of DNA oligonucleotides would be needed to … Read more
I have had the privilege of attending this conference every year (except for one) for over 10 years, and this year has a few memorable experiences, presentations, conversations and introductions. Companies come and go; the mix of attendees is of course different every year; and I’ve had enough change in my own professional affiliation that … Read more