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This project is maintained by Pablo Cingolani


Acknowledgements and special thanks to (in order of appearance):

  • Adrian Platts (McGill): tons of feedback, feature suggestions, test cases, etc.
  • Doug Ruden (WSU): feedback, features request, debugging.
  • Louis Letourneau (McGill / Genome Quebec): bug fixes, features suggestions, etc.
  • Dave OConnor (UW-Madison): feature suggestions, HIV genome.
  • Denis Reshetov (Rogaev lab): VCF output support and debugging on GTF parsing.
  • Louis Letourneau (McGill / Genome Quebec): Maven project.
  • Mark DePristo, Eric Banks & David Rozen (Broad): VCF parsing and VCF output.
  • Jonathan Fresnedo (University of California, Davis): P.Persica genome support.
  • GATK: integration was performed by Broad's Genome Analysis Team: David Rozen, Eric Banks and Mark DePristo
  • Arno Velds (NKI: Netherlands Cancer Institute): Annomalities in ENSEMBL annotation files that led to '-onlyCoding = auto' development, as well as "rogue transcript filters".
  • Giulio Genovese: ENSEMBL annotation problems, fixing and improving "rogue transcript" problem.
  • Louis Letourneau (McGill / Genome Quebec): dbNSFP implementation
  • Peter Briggs (Manchester University) : Improved Galaxy interface and wrappers.
  • Jim Johnson (Minnesota Supercomputing Institute, University of Minnesota): SnpSift improvements and bugfixes.
  • Davide Cittaro (Center for Translational Genomics and Bioinformatics, Ospedale San Raffaele): Debugging and beta-testing for both SnpEff & SnpSift. Helped to debug many interoperability, compatibility and format specification issues.
  • Louis Letourneau (McGill / Genome Quebec): Cancer effects, HSGV notation, etc.
  • Sarmady, Mahdi (Children's hospital of Philadelphia): hg19 using transcript version from UCSC.
  • Leipzig, Jeremy & Sarmady, Mahdi (Children's hospital of Philadelphia): HGVS notation
  • Jinghua (Frank) Feng (University of Adelaide) : Losts of feedback, debugging and improvements in SnpSift annotations.
  • Andrea Mafficini (University of Verona, Italy) : Support for dbNSFP 2.1
  • Jim Johnson (Minnesota Supercomputing Institute, University of Minnesota): SnpSift 'rmFilter' bugfix.
  • Brad Chapman (Harvad): HomeBrew (HomeBrew-Science) support and bash wrapper.
  • Marco Cusumano-Towner & Eugene Brevdo (SVBio): Insertions in reverse strand bug report and bugfix.
  • Uma Devi (U. Virginia), Karen Eilbeck (U. Utah) & Nicole Marie Ruiz (U. Utah): Sequence Ontology, made right.
  • Ryan Calhoun (Apistry): SnpSift annotate, tabix index bug.

Contact information

Pablo Cingolani.