Variant Calling and SNP Analysis
Variant Type Reference
| Type | Size | Example | |------|------|---------| | SNV | 1 bp | A→G | | MNV | 2+ bp equal length | AT→GC | | Insertion | 1–50 bp | A→ATCG | | Deletion | 1–50 bp | ATCG→A | | Large SV | >50 bp | detected by split reads / depth | | CNV | variable | depth-based (deletion=low depth, dup=high depth) |
GATK Best Practices Pipeline
# BWA alignment — always set read groups or MarkDuplicates/HaplotypeCaller will fail
bwa mem -
[Description truncada. Veja o README completo no GitHub.]