A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form

(2011) Jeroen F J Laros et al.   BMC BIOINFORMATICS

Describing structural changes by extending HGVS sequence variation nomenclature

(2011) Peter E.M. Taschner et al.   HUMAN MUTATION

MU2A—reconciling the genome and transcriptome to determine the effects of base substitutions

(2010) Vijay Garla et al.   BIOINFORMATICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Splign: algorithms for computing spliced alignments with identification of paralogs

(2008) Yuri Kapustin et al.   Biology Direct