DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels

Quantifying harmful mutations in human populations

(2012) Sankar Subramanian   EUROPEAN JOURNAL OF HUMAN GENETICS

1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data

(2012) Jie Huang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Evolutionary diagnosis method for variants in personal exomes

(2012) Sudhir Kumar et al.   NATURE METHODS

The 1000 Genomes Project: data management and community access

(2012) Laura Clarke et al.   NATURE METHODS

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Predicting the effects of frameshifting indels

(2012) Jing Hu et al.   GENOME BIOLOGY

Ranking insertion, deletion and nonsense mutations based on their effect on genetic information

(2011) Amin Zia et al.   BMC BIOINFORMATICS

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Functional Non-Synonymous Polymorphisms Prediction Methods: Current Approaches and Future Developments

(2011) M. Gonzalez-Castejon et al.   CURRENT MEDICINAL CHEMISTRY

In silico SNP analysis and bioinformatics tools: a review of the state of the art to aid drug discovery

(2011) James T.L. Mah et al.   DRUG DISCOVERY TODAY

Natural genetic variation caused by small insertions and deletions in the human genome

(2011) R. E. Mills et al.   GENOME RESEARCH

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

Proteome-wide evidence for enhanced positive Darwinian selection within intrinsically disordered regions in proteins

(2011) Johan Nilsson et al.   GENOME BIOLOGY

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

Evolutionary evidence of the effect of rare variants on disease etiology

(2010) IP Gorlov et al.   CLINICAL GENETICS

Small insertions and deletions (INDELs) in human genomes

(2010) J. M. Mullaney et al.   HUMAN MOLECULAR GENETICS

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions

(2010) Matthew Mort et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Improving computational protein design by using structure-derived sequence profile

(2010) Liang Dai et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Ride the wavelet: A multiscale analysis of genomic contexts flanking small insertions and deletions

(2009) E. M. Kvikstad et al.   GENOME RESEARCH

Identification of deleterious non-synonymous single nucleotide polymorphisms using sequence-derived information

(2008) Jing Hu et al.   BMC BIOINFORMATICS

Improving the prediction accuracy of residue solvent accessibility and real-value backbone torsion angles of proteins by guided-learning through a two-layer neural network

(2008) Eshel Faraggi et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Sequence context affects the rate of short insertions and deletions in flies and primates

(2008) Amos Tanay et al.   GENOME BIOLOGY