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Sentieon | Application Tutorial: Germline Variant Detection Analysis of HiFi Long-Read Data Using DNAscopeIntroduction This document describes germline variant calling for PacBio® HiFi data using Sentieon® DNAscope. PacBio® HiFi technology produces high-quality long reads with quality scores above Q20 and average lengths between 10-25kb. These accurate long reads enable precise variant detection in genomic repeat regions that are challenging for short-read and noisy long-read methods....0 Commenti 0 condivisioni 737 Views 0 Anteprima
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Sentieon | Application Tutorial: Recommendations for Read GroupsIntroduction This document describes the recommended usage of the RGID field when using Sentieon® Genomics software to minimize potential issues. This document will help you determine the best practices for setting the different fields of the RG tags in the bam files you use. Detailed description of RG fields and their usage Detailed description of RG fields The SAM format...0 Commenti 0 condivisioni 160 Views 0 Anteprima
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Sentieon | Application Tutorial: TNscope® Using Machine Learning Models for Somatic Variant Discovery with Matched Normal Samples;Using Machine Learning Models in TNscope® Objectives of Machine Learning Models in TNscope® TNscope® allows you to use machine learning models for variant filtering to improve the accuracy of results. The machine learning model approach is described in https://www.biorxiv.org/content/early/2018/01/19/250647, and TNscope® uses a series of sensitive settings to detect more...0 Commenti 0 condivisioni 142 Views 0 Anteprima