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Tuesday, April 25, 2017

Happy DNA Day! A Celebration of Great Science

It’s DNA Day, the annual celebration of the discovery of the double helix, the completion of the Human Genome Project, and all things genetic. We like to take the opportunity to look back at DNA-based advances from the past year, and progress has been truly stunning. Just when we think it couldn’t get more awe-inspiring, scientists generate new results that prove us wrong. One of the most impressive feats in the past year has been the proliferation of population-specific, reference-grade human genomes. From the Chinese genome assembly that recovered nearly 13 Mb of sequence missed in GRCh38 and produced new…

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Saturday, April 22, 2017

On Earth Day, a Shout Out to the Conservation Genomics Community

Today is Earth Day, a great time to reflect on the growing trend of conversation genomics. We are proud that many scientists are using PacBio long-read sequencing for the goal of rescuing endangered species and preserving delicate ecosystems around the world. One of the first examples we saw of this approach came from Oliver Ryder at the San Diego Zoo Institute for Conservation Research. Ryder and his team performed SMRT Sequencing for the ‘alalā, a Hawaiian crow, which no longer existed in the wild. In this video, he describes how having a high-quality genome assembly for this bird will have a significant…

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Friday, April 21, 2017

Review Paper Showcases Clinical Applications for SMRT Sequencing

Researchers from the Okinawa Institute of Advanced Sciences published a compelling review article describing several recent clinically relevant projects they have completed using SMRT Sequencing. Released in the journal Human Cell, “Advantages of genome sequencing by long-read sequencer using SMRT technology in medical area” comes from lead author Kazuma Nakano, senior author Takashi Hirano, and collaborators. The team adopted long-read PacBio sequencing as an alternative to short-read sequencers that missed too many important genomic elements. “PacBio RS II confers four major advantages compared to other sequencing technologies: long read lengths, high consensus accuracy, a low degree of bias, and simultaneous capability of…

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Thursday, April 13, 2017

New QC Pipeline for Iso-Seq Data Increases Confidence in Transcript Results

A preprint from scientists at the University of Florida, Centro de Investigaciones Principe Felipe, and other institutes describes a new analysis tool to help boost quality of transcriptome studies. “SQANTI: extensive characterization of long read transcript sequences for quality control in full-length transcriptome identification and quantification” comes from lead author Manuel Tardaguila, senior author Ana Conesa, and collaborators. The automated pipeline for Structural and Quality Annotation of Novel Transcript Isoforms (SQANTI) was developed as a quality-assessment tool for transcripts discovered with SMRT Sequencing. SQANTI “calculates up to 35 different descriptors of transcript quality and creates a wide range of summary graphs to…

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Tuesday, April 11, 2017

Crow Genome Analysis Combines Assemblies to Spot Tandem Arrays

Photo by Jonn Leffmann A new publication in Genome Research shows how the use of SMRT Sequencing, in combination with other technologies, can reveal far more about repetitive DNA and structural variants than short-read sequencing alone. In this paper, scientists compared genome assemblies produced with short reads, long reads, and optical maps to understand the performance of each approach. From Uppsala University, the University of Munich, and Bionano Genomics, the team studied the Eurasian crow for this project. The resulting paper, “Combination of short-read, long-read and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications,” comes from…

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Monday, April 10, 2017

Network with the SMRT Community at Our Upcoming User Group Meetings & Events

We are excited to announce our 2017 series of SMRT Community Events and User Group Meetings (UGMs), where you can learn first-hand how members of the scientific community are leveraging the latest capabilities of SMRT Sequencing for a growing number of applications. Our vibrant community of users are enthusiastic about sharing tips, exchanging ideas, and developing new applications. These upcoming events will facilitate just that — and we hope you can join us! We are now accepting registrations for our SMRT Leiden, Americas East Coast UGM and Asia Pacific UGM. Please save the date for our Americas West Coast UGM,…

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