Optical Mapping


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 […]


Nabsys single molecule mapping technology

Another interesting single-molecule technology is a company out of Providence (RI) called Nabsys. For several years I had heard the name involved in developing single-molecule sequencing technology, and this technology will start its initial product around genomic mapping, rather than sequencing. For background on genomic mapping and CNV analysis along […]


Single molecule mapping OpGen making slow progress 2

In contrast to BioNano Genomics, who is starting commercialization with early access customers now and full commercial launch in the Spring of 2013, OpGen launched the Argus™ Optical Mapping system in the summer of 2010. Their customers use this system for microbial strain mapping, mainly for infectious disease research or […]