Building a CNV Analysis Pipeline from Your Own Whole-Genome Data
A practical walkthrough for calling and filtering copy number variants from a 30x whole-genome CRAM, with the limits of what each caller can see.
Tag: cnv
3 posts
Annotating copy-number variants from your own whole-genome data
A working pipeline that turns raw CNV calls from a personal genome into an annotated and prioritized table, with visual confirmation.
Whole Genome Array: What It Measures and What It Misses
A whole genome array genotypes or copy-number-profiles preselected positions across all 24 chromosomes. Here is what the platforms resolve, the file formats you get, and how the data compares to 30x whole-genome sequencing.