An unusual presentation by a recently-retired NASA scientist Dr. John Charles shares an unusual and highly entertaining presentation entitled “From here to Mars: How the Twins Study and the year-long ISS mission have moved us closer to the red planet” The agenda of AGBT runs a wide range of topics, from the highly specific on … Read more
NGHRI’s Dr. Adam Phillippy presents a remarkable dataset – the telomere-to-telomere assembly of a complete human X chromosome When the completion of the Human Genome Project was announced on June 6, 2002, President Bill Clinton said the following: We are here to celebrate the completion of the first survey of the entire human genome. Without … Read more
A Wellcome Trust supported effort, The Long Read Club seeks to resurrect a time-honored tradition: protocol development After a long 5 days away from home and work and the routines that surround it, attending AGBT (and likewise other major conferences) is a tremendous amount of work. I was teasing a division lead for a major … Read more
According to one thought-leader, it was the highlight of Advances of Genome Biology and Technology 2019 in Marco Island FL Way back in 1997 Craig Venter and Daniel Cohen (co-founder of Millenium Pharmaceuticals, among other things) wrote an essay entitled ‘The Century of Biology’. Here we are a little under twenty years into this new … Read more
Single-cell isoforms from long-reads take the stage at the Advances for Genome Biology and Technology, along with structural variation and better reference genomes. Underlying all these advances is better long-read technology from Pacific Biosciences and Oxford Nanopore. Thinking a little further about the overarching theme of this year’s Advances in Genome Biology and Technology conference … Read more
A commercial platform for droplet genomics Once upon a time Fluidigm had a single-system called the C1. Okay, it was back in September of 2013 that I wrote about it here; reading what I wrote way back then over five years ago there are newer and improved SMARTer cDNA kits (take a look at this … Read more
There may still be room in NGS for innovation in workflow A few years ago Illumina’s Scientific Affairs team put together a gigantic wall-poster of all the different types of library preparation methods for next-generation sequencing (NGS). Today there are no less than three posters (one for DNA, one for RNA, and a third for … Read more
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
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
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