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An Overview of Variant Calling and Analysis in NGS Data
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...
Best Practices for Quality Control and Pre-processing of NGS Data: A Guide for Academic Researchers
As academic researchers, we know that the analysis of next-generation sequencing (NGS) data can be complex and time-consuming. The quality of NGS data directly affects the accuracy of downstream analyses, making it essential to ensure that high-quality data is...
User-Friendly NGS Analysis Software Improves Embryo Selection & IVF Success Rates
One of the pioneering medical device companies specializing in IVF (In Vitro Fertilization) found itself at a crossroads. They already had a multi-billion dollar portfolio of instruments, assays, and culture media and decided to expand their portfolio to include a...
BQSR recalibration in the GATK pipeline: Bioinformatics Office Hours Question of the Week – September 1 2022
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...
Providing Superpowers to Bioinformaticians
Cell and Gene Therapy Biotechnology Company Case Study Time is everything for a bioinformatician. With an active R&D group constantly creating new datasets that need to be analyzed, keeping up with their requests is an uphill battle. The newly...
How Basepair Enables Labs to Work and Collaborate Remotely
With a large number of companies and universities taking extensive measures to curb the spread of COVID-19, many employees are now working remotely. A range of software tools help remote teams seamlessly manage messages, meetings, and projects. Slack for messaging,...