How to Read Your Own DNA Sequence From Raw Files
A practical walkthrough of going from FASTQ, BAM/CRAM, and VCF files to an actual nucleotide sequence you can read, translate, and check against the reads it came from.
Tag: variants
2 posts
VCF Annotation Tools: What to Run on Your Own Genome
A working pipeline for annotating a personal whole-genome VCF: normalize with bcftools, annotate with Ensembl VEP offline, join custom datasets with vcfanno or slivar, then filter down to something you can read.