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.
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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.
A working guide to verifying, converting, and analyzing a personal 30x whole-genome file: checking the reference build, CRAM to BAM, coverage QC, variant calling, haplogroups, and microarray-format exports.