Doreen Ware introduces her team’s new assembly of maize, built with PacBio long-read sequencing and genome maps from BioNano Genomics. With a contig N50 of nearly 10 Mb and more complete information than any previous assembly, Ware says, “This is just an amazing time to be a plant scientist.” Her presentation includes a number of highlights from the new assembly, which may help crop improvement efforts for maize.
See what PacBio users had to say about SMRT Sequencing at the Plant and Animal Genome (PAG) Conference in San Diego. This brief video captures highlights from posters, presentations, and the exhibit hall. See how SMRT Sequencing benefits plant and animal scientists in their genomic investigations. [Engligh, some Mandarin]
Transmission of arboviruses such as Dengue Virus by Aedes aegypti causes debilitating disease across the globe. Disease in humans can include severe acute symptoms such as hemorrhagic fever and organ failure, but mosquitoes tolerate high titers of virus in a persistent infection. The mechanisms responsible for this viral tolerance are unclear. Recent publications highlighted the integration of genetic material from non-retroviral RNA viruses into the genome of the host during infection that relies upon endogenous retro-transcriptase activity from transposons. These endogenous viral elements (EVEs) found in the genome are predicted to be ancient, and at least some EVEs are under…
Single Molecule Real-Time (SMRT) Sequencing was used to generate long reads for whole genome shotgun sequencing of the genome of the`alala (Hawaiian crow). The ‘alala is endemic to Hawaii, and the only surviving lineage of the crow family, Corvidae, in the Hawaiian Islands. The population declined to less than 20 individuals in the 1990s, and today this charismatic species is extinct in the wild. Currently existing in only two captive breeding facilities, reintroduction of the ‘alala is scheduled to begin in the Fall of 2016. Reintroduction efforts will be assisted by information from the ‘alala genome generated and assembled by…
Scientists at the USDA and Cold Spring Harbor Laboratory know that better breeding of maize to feed a growing population will depend on an accurate reference assembly. They tackled the previously intractable crop with a combination of PacBio Sequencing and BioNano Genomics® genome maps, leading to the first-ever high-quality reference assembly.
Genomic instability is one of the hallmarks of cancer, leading to widespread copy number variations, chromosomal fusions, and other structural variations. The breast cancer cell line SK-BR-3 is an important model for HER2+ breast cancers, which are among the most aggressive forms of the disease and affect one in five cases. Through short read sequencing, copy number arrays, and other technologies, the genome of SK-BR-3 is known to be highly rearranged with many copy number variations, including an approximately twenty-fold amplification of the HER2 oncogene. However, these technologies cannot precisely characterize the nature and context of the identified genomic events…
During this presentation from ASHG 2015, Maria Nattestad of Cold Spring Harbor Laboratory described the study of a Her2-amplified breast cancer cell line using long-read sequencing from PacBio. With reads as long as 71 kb, she was able to characterize extensive and complex rearrangements and found more than 11,000 structural variants. She also used the Iso-Seq method to find gene fusions, including some novel ones.
Yunfei Guo, from the University of Southern California, presents his ASHG 2015 poster on a de novo assembly of a diploid Asian genome. The uniform coverage of long-read sequencing helped access regions previously unresolvable due to high GC bias or long repeats. The assembly allowed scientists to fill some 400 gaps in the latest human reference genome, including some as long as 50 kb.
Scientists from WashU, Macrogen, and Mount Sinai are using long-read sequencing with single-molecule, next-generation genome mapping to create gold-quality de novo assemblies of human genomes. Unbiased de novo assembled genomes also highlight the substantial amount of structural variation unique to individuals and populations, which cannot be accessed by short-read technologies that use a reference-based re-sequencing approach.
From crop improvement to breeding healthier livestock to modeling human disease, scientists are using PacBio Sequencing to advance understanding of plant and animal genomes. In this article, we look at four examples of plant and animal genome references improved or made possible with SMRT Sequencing, including an early example of transcriptome sequencing of a chicken for improved annotation. These examples highlight insights gained with SMRT Sequencing that are missed with short-read data, such as complex regions or novel genes.
At the Icahn Institute for Genomics and Multiscale Biology, scientists use automated DNA sizing together with long- read sequencing to analyze human samples, conduct routine surveillance on microbes, and more.