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Wednesday, January 27, 2016

A Genome Galaxy Not So Far Away

Blog readers know that we are committed to supporting open-access research, from working with the informatics developer community to develop improved tools to releasing SMRT Sequencing data so scientists can mine it themselves. We’re proud to launch a new program that takes this commitment to the next level: the Genome Galaxy Initiative. This initiative stems from twin trends in the scientific community: rapidly increasing demand for SMRT Sequencing, even for very small projects, and increasing awareness that alternative funding sources are important to keep pushing genomics forward. We’ve partnered with scientific crowdfunding platform Experiment to connect researchers directly with the…

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Thursday, January 21, 2016

From Genetic Diagnosis to a Career in Genomics Research: An Interview with Jim Lupski

For Jim Lupski, his long-standing interest in the field of genomics is both personal and professional. His personal interest dates from his teenage years, when he was diagnosed with a rare genetic disease called Charcot-Marie-Tooth (CMT) neuropathy. As a clinician and scientist, he made it his mission to find the genetic basis of CMT, and in 1991 published his discovery of the CMT1A duplication, pioneering the field of structural variation and particularly copy number variation. Today he is a practicing pediatrician and a professor of molecular and human genetics at Baylor College of Medicine, where he is the Principal Investigator…

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Tuesday, January 19, 2016

Case Study: Comprehensive View of Maize Genome Offers Regulatory Insight

When Doreen Ware and her team’s latest genome project is complete, the plant science community will have a critical new tool that once seemed virtually impossible: a robust reference assembly for the maize genome. This resource will support breeding of hardier, higher-yielding lines of maize, the number one crop plant in both the U.S. and China. Ware, a computational biologist with the USDA at Cold Spring Harbor Laboratory, says climate change and protecting the environment are major challenges facing agriculture. “We know that we must increase yield in order to meet the expected 9 billion people in less than 25…

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Wednesday, January 6, 2016

Scientists Develop More Accurate Variant-Calling Procedure for Important Drug Metabolism Enzyme Using SMRT Sequencing

In an article entitled “Long-read single-molecule real-time (SMRT) full gene sequencing of cytochrome P450-2D6 (CYP2D6)” in Human Mutation, authors Wangiong Qiao, Yao Yang, Stuart Scott and other colleagues at the Icahn School of Medicine at Mount Sinai demonstrate a new way of analyzing the CYP2D6 gene using PacBio long reads. This gene has been shown to have a central role in drug metabolism and is believed to be directly involved in the metabolism of ~25% of all commonly used drugs. Given its importance, CYP2D6 genotype testing is now being widely used to predict how efficiently patients will metabolize drugs such…

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Tuesday, January 5, 2016

Exploring Large Genomes at the Largest Ag Genomics Meeting in the World: PAG 2016

We’re looking forward to the International Plant and Animal Genome conference, taking place January 9-13 in San Diego. PAG features leading plant and animal scientists from around the world, and we’re continually impressed by their new discoveries and creative approaches to understanding large and complex genomes. This year PAG attendees will have a number of opportunities to learn more about how SMRT Sequencing reveals new information about even well-characterized plant and animal genomes. We’ll be exhibiting in booth #421 — and showing off our new Sequel System — so please stop by and tell us about your work. We’ll also…

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