Editing Sequence analysis (section)

=== Variant annotation ===

This step adds context to the variant data using curated information from peer-reviewed papers and publicly available databases like gnomAD and [[Ensembl genome database project|Ensembl]]. Variants can be annotated with information about genomic features, functional consequences, regulatory elements, and population frequencies using tools like ANNOVAR or SnpEff,<ref>{{cite journal |last1=Cingolani |first1=P |last2=Platts |first2=A |last3=Wang |first3=L |display-authors=2 |title=A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff |journal=Fly |date=April 2012 |volume=6 |issue=2 |pages=80–92 |doi=10.4161/fly.19695 |pmid=22728672 |pmc=3679285 |url=https://doi.org/10.4161/fly.19695}}</ref> or custom scripts and pipeline. The output from this step is an annotation file in bed or txt format.<ref name=sequence_analysis/>