InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

This publication has 59 references indexed in Scilit:

• Predicting the functional consequences of cancer-associated amino acid substitutions
  Bioinformatics, 2013
• Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
  American Journal of Human Genetics, 2012
• De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
  Nature Genetics, 2012
• InterPro in 2011: new developments in the family and domain prediction database
  Nucleic Acids Research, 2011
• dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
  Human Mutation, 2011
• Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
  American Journal of Human Genetics, 2011
• ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
  Nucleic Acids Research, 2010
• Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
  Bioinformatics, 2010
• Targeted capture and massively parallel sequencing of 12 human exomes
  Nature, 2009
• Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans
  Proceedings of the National Academy of Sciences, 2002