Next Gen Sequencing


The world’s first complete chromosome sequence at #AGBT19

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 full x-chromosome map

The age of mRNA isoform discovery at #AGBT19

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 […]


List of applications on the Nabsys 2.0 HD-Mapping Platform

Nabsys 2.0 Single Molecule Mapping

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 […]


DNAfeed – AI-assisted Genetic Counseling on-demand

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 […]


Detecting cancer four years before conventional diagnosis

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 […]