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Wednesday, September 29, 2021

Long-read HiFi Sequencing is Helping Researchers Tackle Biggest ALS Challenges

  Seven years after the ALS Ice Bucket Challenge soaked the world, the pace of discovery in sporadic amyotrophic lateral sclerosis has increased tremendously, with more than $115 million dollars in donations funding research that has led to the identification of several genes implicated in both familial and sporadic cases of the neurodegenerative disease. While the social campaigns have generated much needed awareness around the disease, there are other challenges – one of which can be addressed with long-read sequencing. As detailed in a new, interactive case study, PacBio SMRT Sequencing is helping researchers at the University of Washington unravel…

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Thursday, September 23, 2021

ESHG 2021: How HiFi Sequencing is Closing the Gaps in Rare Disease Research

  It’s a challenge that has haunted rare disease researchers for years: how to increase solve rates in rare and Mendelian disease. Currently, the genetic cause of more than half of rare disease cases worldwide remain unexplained. In a series of talks and posters presented at the 2021 annual meeting of The European Society of Human Genetics (#ESHG21), PacBio experts and users described how HiFi sequencing could help close the gap by providing more comprehensive, accurate and high-definition coverage of the gaps in the human genome. Here is a summary of the discussions that took place and the posters that…

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Wednesday, May 19, 2021

Scientists Use PacBio Sequencing to Discover Likely Pathogenic Structural Variants Linked to ALS

May is ALS Awareness Month, and we’re hoping to help raise awareness by shining a spotlight on two deserving publications from scientists at the University of Washington and at the Mayo Clinic. In both studies, researchers used PacBio technology to sequence targeted genomic regions and to discover and characterize complex pathogenic variants associated with ALS. ALS, short for amyotrophic lateral sclerosis and commonly known as Lou Gehrig’s disease, is a progressive disease of the nervous system that causes loss of muscle control. The mean survival time for patients with ALS is just three to five years from diagnosis, and there…

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Tuesday, November 10, 2020

Secrets to Longevity Explored in de novo Genome of 115-Year-Old Woman

Hendrikje van Andel-Schipper, at age 108 A new publication from scientists in The Netherlands and Belgium offers tantalizing insights that may shed light on age-related neurodegenerative disorders. The team used SMRT Sequencing to produce a de novo diploid assembly of the genome of a Dutch woman named Hendrikje van Andel-Schipper, who died at the age of 115 with no signs of cognitive decline, and then performed a detailed analysis of variants detected. The data are publicly available to the scientific community. The paper, released in Translational Psychiatry, comes from lead author Jasper Linthorst and senior author Henne Holstege (@HolstegeHenne) at…

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Wednesday, January 8, 2020

SMRT Grant Winner: Hunting for Answers in Spinocerebellar Ataxia

Cleo van Diemen, University Medical Center Groningen A hearty congratulations to Cleo van Diemen at the University Medical Center Groningen for winning the 2019 Neuroscience SMRT Grant! Van Diemen’s impressive proposal involves using PacBio long-read sequencing to find new genetic mechanisms associated with spinocerebellar ataxia (SCA). While some 70% of SCA patients can get clear diagnostic and prognostic information because they have one of the ~37 genes known to be associated with this condition, 30% of patients have no such clarity. In this project, van Diemen and her colleagues will use their SMRT Grant award to generate highly accurate long…

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