Named after shotgun DNA sequencing, in which long DNA sequences are computationally reconstructed from many short sequencing reads, shotgun proteomics identifies proteins from tandem mass spectra of ...
AutoPVS1 use VEP to determine the effect of variants (SNVs, insertions, deletions, CNVs) on genes, transcripts, and protein sequence. To get HGVS name for the variant, indexed_vep_cache ...