SIFT web server: predicting effects of amino acid substitutions on proteins

Predicting the effects of frameshifting indels

(2012) Jing Hu et al.   GENOME BIOLOGY

Influence of Eight Unclassified Missense Variants of the MLH1 Gene on Lynch Syndrome Susceptibility

(2011) Yimei Fan et al.   BIOCHEMICAL GENETICS

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

(2011) Stephanie Hicks et al.   HUMAN MUTATION

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

Performance comparison of whole-genome sequencing platforms

(2011) Hugo Y K Lam et al.   NATURE BIOTECHNOLOGY

The UCSC Genome Browser database: extensions and updates 2011

(2011) T. R. Dreszer et al.   NUCLEIC ACIDS RESEARCH

A Non-Synonymous Mutation in the Canine Pkd1 Gene Is Associated with Autosomal Dominant Polycystic Kidney Disease in Bull Terriers

(2011) Puya Gharahkhani et al.   PLoS One

RAD51C Germline Mutations in Breast and Ovarian Cancer Cases from High-Risk Families

(2011) Jessica Clague et al.   PLoS One

Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study

(2010) Lin-Lin Wang et al.   ALCOHOL

Evaluation of germline BMP4 mutation as a cause of colorectal cancer

(2010) Steven J. Lubbe et al.   HUMAN MUTATION

Bioinformatic processing to identify single nucleotide polymorphism that potentially affect Ape1 function

(2010) Eizadora T. Yu et al.   MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Deleterious amino acid polymorphisms in Arabidopsis thaliana and rice

(2010) Torsten Günther et al.   THEORETICAL AND APPLIED GENETICS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods

(2009) Janita Thusberg et al.   HUMAN MUTATION

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Bi-Directional SIFT Predicts a Subset of Activating Mutations

(2009) William Lee et al.   PLoS One

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Periodic re-emergence of endemic strains with strong epidemic potential—A proposed explanation for the 2004 Indonesian dengue epidemic

(2007) Swee Hoe Ong et al.   INFECTION GENETICS AND EVOLUTION