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Monday, February 29, 2016

On Rare Disease Day, Celebrating the Contributions of Genomics

Today we are celebrating Rare Disease Day with like-minded folks all over the world. The tribute kicked off in 2008 and has gathered so much momentum that people in more than 80 countries are expected to participate in 2016. Each disease is rare — affecting fewer than 1 in 1,500 people — but because there are so many of these diseases, together they affect millions of people globally. Here at PacBio, many of our team members have their own stories about dealing with rare disease, and we imagine the same is true of our blog readers. We’re so proud that…

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Thursday, February 25, 2016

New Views of Microbial Communities Call for Updates to Infectious Disease Tenets

Robert Koch In a perspective recently published in Science magazine, scientists Allyson Byrd and Julie Segre from the National Human Genome Research Institute used recent advances in microbial analysis to look at Koch’s postulates through a new lens. Published by Robert Koch in 1890, these principles have become widely accepted in microbiology as the definitive means to prove that a specific pathogen is the cause of an infectious disease. As summarized by Byrd and Segre, the postulates dictate that: “First, the microorganism occurs in every case of the disease; second, it is not found in healthy organisms; and third, after…

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Tuesday, February 23, 2016

15th Anniversary of the Human Genome Publication; A Conversation with Mike Hunkapiller

This month serves as the 15th anniversary of the first publication of the human genome by both public and private efforts. PacBio CEO Mike Hunkapiller was a central player in both efforts as the leader of Applied Biosystems, the company that developed and supplied the automated Sanger-based sequencing technology that made the projects possible. In honor of the occasion, Mendelspod host Theral Timpson asked Mike to join him in a commemorative conversation to discuss his memories of the project, as well as how genome sequencing technology has developed since. Mike talked about what was happening behind the scenes of these…

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Monday, February 22, 2016

AGBT Day 4: A Better Gorilla Assembly, and Data from the Sequel System

On the final day of AGBT, attendees strapped in for the last talks of the conference before the ’80s-themed dance party to close out the meeting. Two of those talks focused on SMRT Sequencing, one including new data from our Sequel System. Christopher Hill from the Eichler lab at the University of Washington gave a fascinating talk on creating reference-grade assemblies for the great ape species. These resources will be incredibly helpful for shedding light on biological mechanisms behind speech, disease, neurological behavior, and other traits that separate us from our closest primate relatives. Current assemblies for these apes — including bonobo,…

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Friday, February 19, 2016

AGBT Day 3: Human Genomes and Their Microbial Friends

We’ve been in the genomics world long enough to remember when it was a big deal to see a great single-gene assembly or microbial genome assembly reported in an AGBT talk. It’s really something to attend this year and see some beautifully assembled whole human genomes. Several of the Friday talks really captured our interest, but we can only cover a couple of them here. NCBI’s Valerie Schneider spoke about efforts through the Genome Reference Consortium to improve assembly of the human reference genome, noting that one challenge has been the shift from a clone-based approach during the Human Genome…

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Thursday, February 18, 2016

AGBT Days 1 & 2: Metagenomic Dark Matter and the GenomeAsia 100K

This year’s AGBT presentations took our minds off how much we missed the Marco Island beach. Wednesday’s opening plenary talks ranged from the ocean virome to Ebola and beyond. David Haussler’s call for open and better sharing of human genomes was a message that clearly resonated with this community, and we hope it inspires people to find new ways of breaking down the data silos. On Thursday, the 800 or so attendees braced for a full day of scientific sessions. We can’t recap all of the talks here, but check out AGBT’s blog coverage for detailed accounts of the plenary…

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Monday, February 8, 2016

Discover the Art of SMRT Sequencing:
AGBT Kicks Off This Week

We’re packing our bags for Orlando and the 17th annual Advances in Genome Biology and Technology (AGBT) conference! While we’ll miss the usual Marco Island setting, this year’s talks and posters look as appealing as ever. And as a meeting sponsor, we’ll be right in the thick of it — with a workshop, party, and coffee-lounge-style hospitality suite for AGBT attendees. It’s a thrill to see that more than 40 talks and posters will showcase SMRT Sequencing data, many for human biomedical research applications. Customer presentations include a talk from the National Center for Biotechnology Information on evolving approaches to…

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Wednesday, February 3, 2016

Genome Galaxy Initiative:
Tick Hunter Cory Gall Seeks to Trace the Cause of Acute Febrile Illness

We recently introduced our Genome Galaxy Initiative  in partnership with Experiment, through which we’re helping scientists fund genomic research for the benefit of science and society. One of the first explorers of this initiative is Cory Gall, a graduate student at Washington State University who wants to curb the onset of a disease that may be linked to ticks in Africa. Gall brings our attention to the rising incidence of acute febrile illness occurring in the Mnisi community in South Africa, where close proximity of community animals (including dogs and cattle) and wild animals in a nearby national park may…

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Tuesday, February 2, 2016

Scientists Investigate Minor Influenza Strains in Pandemic, Revealing New Clues in Flu Transmission

On the heels of her remarkable paper tracing influenza evolution in a single host last spring, New York University’s Elodie Ghedin has come out with a new publication in Nature Genetics that offers a higher-resolution view of how the flu spreads through a population. From lead author Leo Poon at the University of Hong Kong and senior author Ghedin, “Quantifying influenza virus diversity and transmission in humans” reports the results of an international collaboration to track the Hong Kong flu pandemic of 2009. The authors began with the premise that much about the genetically diverse influenza A virus is unknown,…

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