Sentieon | Application Tutorial: Germline Variant Detection...

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2024-12-06 02:37:45 -

Sentieon | Application Tutorial: Germline Variant Detection Analysis of HiFi Long-Read Data Using DNAscope

Introduction 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....

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