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Wednesday, October 31, 2018

Smell of Success: Garlic Study Validates New Approach to Transcriptome Association

Genome-wide association studies (GWAS) may be powerful tools for the identification of genes underlying complex traits, but what if you have an incredibly complex, uncharacterized genome, with no sequenced progenitor or related species? A team of scientists from the Chinese Academy of Agricultural Sciences in Changsha, China came up with a solution: a transcriptome-referenced association study (TRAS), powered by our Iso-Seq method. The approach, outlined in this DNA Research paper, utilized a transcriptome generated by SMRT Sequencing as a reference to score population variation at both transcript sequence and expression levels. The team, led by Touming Liu and first author Xiaojun…

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Monday, October 22, 2018

SMRT Sequencing and a Bit of Luck Help Swiss Microbiologists Solve Decades-Old Mystery

It’s a murder mystery of massive proportion, albeit on a miniature scale: Male-killing among several species of insects, caused by selfish symbiotic bacteria. Swiss researchers believe they have finally solved a question that has stumped scientists for decades, with potential implications for pest and infection control. Researchers have identified the toxin responsible for selective killing of male fruit flies (left) using PacBio sequencing. In a recent Nature publication, Toshiyuki Harumoto and Bruno Lemaitre of the Global Health Institute at the École Polytechnique Fédérale de Lausanne (EPFL) in Lausanne, Switzerland, have reported their findings regarding a toxin in Spiroplasma poulsonii, one…

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Wednesday, October 10, 2018

Sequel System 6.0 Release Offers a New Paradigm in DNA Sequencing: Highly Accurate Single-Molecule Long Reads

Today we’re pleased to announce the release of Sequel System 6.0, including new software, consumable reagents and a new SMRT Cell. Combined, the enhancements in the release improve the performance and affordability of Single Molecule, Real-Time (SMRT) Sequencing by providing individual long reads with greater than 99% accuracy, increasing the throughput up to 50 Gb per SMRT Cell, and delivering average read lengths up to 100,000 base pairs, depending on insert size. These improvements are expected to greatly enhance the accuracy and cost effectiveness of applications such as whole genome sequencing, human structural variant detection, targeted sequencing and RNA transcript isoform sequencing (Iso-Seq method). Estimated…

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Monday, October 8, 2018

Data Release: Highest-Quality, Most Contiguous Individual Human Genome Assembly to Date

We’re proud to announce the release of the most contiguous diploid human genome assembly of a single individual to date, representing the nearly complete DNA sequence from all 46 chromosomes inherited from both parents. The sample used was derived from a Puerto Rican female who has been included in population genetics studies such as the 1000 Genomes Project. The phased diploid assembly will give unprecedented views of population-specific variation through the long-range resolution of maternal and paternal haplotypes. This work is part of a larger effort in the field of personalized medicine and human genomics to add ethnic diversity to…

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Thursday, October 4, 2018

Sanger Institute Birthday Gift to Scientists: 25 New Wildlife Genomes to Support Conservation and Science

King scallops are more genetically diverse than we are? The Roesel’s bush cricket’s genome is four times the size of ours? These are just some of the findings made by scientists at the Wellcome Sanger Institute after undertaking a project to sequence the DNA of 25 wildlife species important to the United Kingdom. Although many of the species they selected are native to the British Isles, the implications of the research are expected to extend around the globe. The project’s first data release, the Golden Eagle genome, for instance, will impact the study of eagles in North America and elsewhere,…

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Wednesday, October 3, 2018

Beloved Barn Swallow Gets SMRT Sequencing “Platinum Genome” Treatment

UPDATED Dec. 3, 2018 Congratulations to the Italian team on the publication of their European barn swallow genome! The paper is now available at GigaScience. ORIGINAL POST Oct. 3, 2018 With its bold blue plumage, russet throat and chipper chirps, the barn swallow is beloved by many avian enthusiasts. It’s also a favorite of scientists, becoming a flagship species for conservation biology. Numerous evolutionary and ecological studies have focused on its biology, life history, sexual selection, response to climate change, and the divergence between its eight subspecies in Europe, Asia and North America. But the full potential of such studies has…

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