Structural Variant Calling on Your Own Genome
What structural variants are, which callers to run on short-read and long-read whole-genome data, the flags that matter, and how to tell a real call from an alignment artifact.
2 posts
What structural variants are, which callers to run on short-read and long-read whole-genome data, the flags that matter, and how to tell a real call from an alignment artifact.
A practical comparison of Oxford Nanopore, Illumina, Element, PacBio, and Sanger for sequencing one person's genome: why we would choose nanopore long reads, what to ask a provider for, and the pipeline we would run on the output.