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Thursday, February 21, 2019

Scientists Uncover Epilepsy-Causing Structural Variant with SMRT Sequencing

A new publication in the Journal of Human Genetics describes an impressive effort to identify the pathogenic variant causing progressive myoclonic epilepsy in two siblings. The scientific team used SMRT Sequencing to discover a 12.4 kb structural variant in a repetitive, GC-rich region after several other methods — including whole exome sequencing — failed to find the answer. The paper comes from lead author Takeshi Mizuguchi, senior author Naomichi Matsumoto, and collaborators at Yokohama City University, Aichi Prefectural Colony Central Hospital, and other institutions in Japan. As the authors note, whole exome sequencing has delivered strong results for many cases…

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Wednesday, February 20, 2019

Unsolved Mysteries: Sequencing to Solve Neurologic Disease with Structural Rearrangements

Kristen Sund Please join us in congratulating Kristen Sund from Cincinnati Children’s Hospital Medical Center for winning our 2018 Structural Variation SMRT Grant Program! Her proposal to use SMRT Sequencing to pinpoint the genetic mechanism responsible for neurological disease in patients with complex structural rearrangements definitely captured our attention. We caught up with Kristen to learn more about her background, her research, and how she hopes to use the data generated through this grant. How did you get into this field? I have always had a very strong interest in research and patient care, so I decided to get training…

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Monday, February 18, 2019

Asian Aquaculture Industry Benefits From Two New Genome Assemblies

With their large brains, sophisticated sense organs and complex nervous systems, cephalopods could teach us a thing or two about learning, memory, and adaptability. But despite their evolutionary, biological, and economic significance, their genome information is still limited to a few species. To bridge this gap, a team of Korean scientists has assembled the genome of the common long-arm octopus (Octopus minor) using PacBio technology to sequence both the DNA and RNA of the emerging model species. Found in Northeast Asia, particularly in coastal mudflats of South Korea, China, and Japan, O. minor has become a major commercial fishery product…

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Thursday, February 7, 2019

Service Providers: Boost Your Reach with a Simple Marketing Strategy

Getting the word out about your services is a surefire way to get more interest — and ultimately more projects — into your pipeline. The good news is, it doesn’t take a marketing specialist or tens of thousands of dollars to get started. You’d be surprised at some of the big gains you can get with a little outlay. There are many ways to boost your name in the genomics service provider world at any budget level. Here we highlight our top three. Start with one and work up from there!   SOCIAL MEDIA: No matter your personal feelings about…

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