To enable the implementation of precise genomics in a local healthcare system, we devised a pipeline for filtering and reporting of relevant genetic information to healthy individuals based on exome o
Using the sarek pipeline default values. Aligned to HG38 using bwa, and dragmap. Variants are called using either haplotypecaller, strelka, deepvariant, or freebayes. Data input was Agilent 200M WES r
This table shows the comparison of multiple tools and platforms that can be used for doing variant annotation, prioritization and clinical genome analysis.
