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An Overview of Variant Calling and Analysis in NGS Data

by Rohan Sharma | Mar 14, 2023 | Bioinformatics

Introduction In recent years, Next-Generation Sequencing (NGS) technologies have revolutionized the field of genomics, enabling researchers to study the genomes of organisms with unprecedented speed and accuracy. However, the large amounts of data generated by these...

BQSR recalibration in the GATK pipeline: Bioinformatics Office Hours Question of the Week – September 1 2022

by Rohan Sharma | Sep 12, 2022 | Bioinformatics

Is it necessary to do base quality score recalibration (BQSR) in the GATK pipeline? How should this be done without an available vcf file of known sites?   (a) Unfortunately the quality scores produced by next generation sequencing instruments are subject to...

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