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Title:           Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data
Subject:         The Journal of Molecular Diagnostics, 26 (2024) 727-738. doi:10.1016/j.jmoldx.2024.05.005
Author:          Elisabet Munté
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      Title: Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data
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        Title: Materials and Methods
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          Title: Study Cohorts
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         Item: 
          Title: Sample Collection and Preprocessing
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         Item: 
          Title: Routine Diagnostics Pipeline
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         Item: 
          Title: PSV Determination
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         Item: 
          Title: Bioinformatic Pipeline Development
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           Item: 
            Title: modify_reference Script
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           Item: 
            Title: run_PMS2_vaR Script
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          Title: PMS2 Variant Validation by LR-PCR
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          Title: Variant Classification
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          Title: Assessment of Routine and PMS2_vaR Pipelines Performance
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        Title: Results
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         Item: 
          Title: Bioinformatic Pipeline Development: Data Processing and Variant Calling
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          Title: Decision-Making Algorithm
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         Item: 
          Title: Assessment of PMS2_vaR Pipeline Performance in the Optimization and Validation Cohorts
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         Item: 
          Title: Prevalence of PMS2 Pathogenic Variants in a Hereditary Cancer Cohort
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        Title: Discussion
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        Title: Conclusions
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        Title: Acknowledgments
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       Item: 
        Title: Disclosure Statement
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        Title: References
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   Type: CRC32
  Checksum: 47e04ef4801c5032af555e20d400b69e
   Type: MD5
  Checksum: 85ce979af1bbae2c8daf91d17d2c65fe5538e9f7
   Type: SHA-1
  Checksum: 01eb04a352dc36dcc7f0aec0ec1f12ede5fc9cb59e5712795bdd51e56b1b438f
   Type: SHA-256