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

This publication has 43 references indexed in Scilit:

• Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
  American Journal of Human Genetics, 2011
• The variant call format and VCFtools
  Bioinformatics, 2011
• Improving SNP discovery by base alignment quality
  Bioinformatics, 2011
• Identification of evolutionarily conserved non-AUG-initiated N-terminal extensions in human coding sequences
  Nucleic Acids Research, 2011
• ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
  Nucleic Acids Research, 2010
• DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy
  Neuromuscular Disorders, 2009
• The complete genome of an individual by massively parallel DNA sequencing
  Nature, 2008
• The EDGE hypothesis: Epigenetically directed genetic errors in repeat-containing proteins (RCPs) involved in evolution, neuroendocrine signaling, and cancer
  Frontiers in Neuroendocrinology, 2008
• Using FlyAtlas to identify better Drosophila melanogaster models of human disease
  Nature Genetics, 2007
• The Relative Rates of Evolution of Sex Chromosomes and Autosomes
  The American Naturalist, 1987