• Set-theory based benchmarking of three different variant callers for targeted sequencing

    20 days ago - By Springer

    Abstract
    Background
    Next generation sequencing technologies have improved the study of hereditary diseases. Since the evaluation of bioinformatics pipelines is not straightforward, NGS demands effective strategies to analyze data that is of paramount relevance for decision making under a clinical scenario. According to the benchmarking framework of the Global Alliance for Genomics and Health , we implemented a new simple and user-friendly set-theory based method to assess variant callers using a gold standard variant set and high confidence regions. As model, we used TruSight Cardio kit...
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  • Crown Bioscience Expands Genomics and Next Generation Sequencing Capabilities To Streamline Translational Biomarker Discovery Workflows

    20 days ago - By San Diego Biotechnology

    SAN DIEGO--Crown Bioscience Expands Genomics and Next Generation Sequencing Capabilities To Streamline Translational Biomarker Discovery Workflows...
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