A team of scientists has published one of the most detailed explorations to date of complex structural variation in a human genome. The results highlight just how much genomic variation is missed when working exclusively with short-read sequencing technologies.
A collaboration of scientists led by researchers from Icahn School of Medicine at Mt. Sinai has created a comprehensive analysis of a diploid human genome using two complementary single DNA molecule methods for sequencing and genome mapping, and without the need for any DNA amplification techniques.
Pacific Biosciences is making advances in the targeted sequencing space, including a partnership with Roche NimbleGen.
The approach should allow “haplotype phas[ing] and assembly of complex regions even in genomic regions containing complex repeats or PCR-challenged sequences that limit the performance of other synthetic long read approaches based on short read sequencing technologies”.
These solutions will combine the power of RainDance’s proprietary digital droplet technology and single-molecule barcoding capabilities with Pacific Biosciences’ proprietary long-range DNA amplification technology to provide sample preparation upstream of PacBio’s long-read sequencing system.
Cover Story – Researchers are bringing advanced technologies like SMRT Sequencing to improve the ancient art of beer brewing.
Researchers from Baylor College of Medicine reported in BMC Genomics how they employed multiple sequencing technologies, library preparations, assembly methods, and genome mapping tools to work toward creating a reference diploid genome long read data from PacBio was especially important.
Pacific Biosciences held a star-studded workshop to show off the feats that can be accomplished with its SMRT (Single Molecule, Real-Time) sequencers, the instruments of choice for recovering long-range structural information on the genome.
As its throughput and average read length have continued to increase, customers have been using the technology for larger and larger genomes. Now, a number of customers are using the technology to de novo sequence whole human genomes, according to presentations at last week’s AGBT meeting.
As its throughput and average read length have continued to increase, customers have been using the technology for larger and larger genomes. Now, a number of customers are using the technology to de novo sequence whole human genomes, according to presentations at last week’s AGBT meeting.
In case you’re not aware, the human genome is not completely sequenced. Regions of repeats and hard to decode sequence continue to elude scientists. And then there is the challenge of genetic variation. Nathan Blow looks at new technologies and methods that could help map these and other difficult-to-read stretches of DNA.
Pacific Biosciences plans to increase the output of its sequencer about fourfold this year, further increase read length, and improve sample prep protocols and data analysis for several applications.
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.
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