Geneticists have a dirty little secret. More than a decade after the official completion of the Human Genome Project, and despite the publication of multiple updates, the sequence still has hundreds of gaps - many in regions linked to disease. Now, several research efforts are closing in on a truly complete human genome sequence, called the platinum genome.
Sequencing instrumentation hasn't changed since we last looked at the market in February 2014, but that's not to say all is as it was. New sample-preparation instruments have arrived on the scene, in addition to new, ever-longer sequencing chemistries.
A worldwide team has used single-molecule, real-time sequencing on a haploid sample to close gaps in the human reference genome and get a more complete view of the structural and sequence variation present in it.
The Suqian Lakeside Pangu Gene Company in Tianjin, China, has established a new genomics facility for translational medicine research projects and will use the PacBio RS II as its major sequencing platform.
Pacific Biosciences said last week that it received a record of 16 instrument orders in the third quarter from customers in a broad range of markets, including microbiology, ag-bio, HLA, and human sequencing.
Pacific Biosciences announced the release of its latest updated chemistry and software, citing new average read lengths between 10,000 - 15,000 bases depending on the library used, with the platform's longest reads exceeding 40,000 bases.
To mangle the old saw, there's more than one way to sequence a transcriptome. For some researchers, the goal is counting transcripts to assess expression levelsÛÓa sequencing-based alternative to DNA microarrays. Others are interested in transcript architecture. Eukaryotic genes are often alternatively spliced, and the choice to include or exclude particular exons can have profound biological consequences.
The high-quality Asian reference genome being produced by investigators at Macrogen and Seoul National University is expected to serve as the centerpiece for a broader project that will ultimately generate genome sequences for more than 10,000 Asian individuals.
An interdisciplinary team of researchers have unlocked a genetic switch controlling the disease - which can cause pneumonia and other invasive infections - that could pave the way to improved vaccines.
Macrogen will use Pacific Biosciences' Single Molecule, Real-Time sequencing platform to create de novo human genome references for the Asian population, the companies announced today.
A new long-read sequencing study in Science Translational Medicine has started to untangle the complexity behind plasmid-mediated antibiotic resistance in hospital-acquired infections involving Enterobacteriaceae pathogens.
Comparing four next-generation sequencing platforms, researchers from Osaka University have found that PacBio RS II provides the most suitable platform to generate finished-grade genome assemblies of bacteria.
Justin Zook of the National Institute of Standards and Technology (NIST) discussed the progress and future goals of the Genome in a Bottle project, which aims to create near-perfectly characterized human genome sequences for use as reference standards.
Earlier this year, Ayal Hendel and colleagues used Pacific Biosciences' PacBio RS II to deep sequence the on-target consequences of genome editing using ZFNs, TALENs or CRISPR/Cas.