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

    22 days ago - By Pacific Biosciences

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

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

    22 days ago - By Pacific Biosciences

    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...
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