Amino Acid Changes in Disease-Associated Variants Differ Radically from Variants Observed in the 1000 Genomes Project Dataset

Characterizing and measuring bias in sequence data

(2013) Michael G Ross et al.   GENOME BIOLOGY

Weak Selection and Protein Evolution

(2012) H. Akashi et al.   GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

An analysis of substitution, deletion and insertion mutations in cancer genes

(2012) Prathima Iengar   NUCLEIC ACIDS RESEARCH

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SDM--a server for predicting effects of mutations on protein stability and malfunction

(2011) C. L. Worth et al.   NUCLEIC ACIDS RESEARCH

Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients

(2011) Carolina Minutolo et al.   PLoS One

MurinePrkdcPolymorphisms Impact DNA-PKcs Function

(2011) Kristin M Fabre et al.   RADIATION RESEARCH

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

The mutational spectrum of non-CpG DNA varies with CpG content

(2010) J.-C. Walser et al.   GENOME RESEARCH

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

ModBase, a database of annotated comparative protein structure models, and associated resources

(2010) U. Pieper et al.   NUCLEIC ACIDS RESEARCH

Structural and Functional Restraints on the Occurrence of Single Amino Acid Variations in Human Proteins

(2010) Sungsam Gong et al.   PLoS One

Structural and functional restraints in the evolution of protein families and superfamilies

(2009) Sungsam Gong et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Using structural bioinformatics to investigate the impact of non synonymous SNPs and disease mutations: scope and limitations

(2009) Joke Reumers et al.   BMC BIOINFORMATICS

Functional annotations improve the predictive score of human disease-related mutations in proteins

(2009) Remo Calabrese et al.   HUMAN MUTATION

Ensembl's 10th year

(2009) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

The Pfam protein families database

(2009) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

The Universal Protein Resource (UniProt) in 2010

(2009)   NUCLEIC ACIDS RESEARCH

SNAP predicts effect of mutations on protein function

(2008) Yana Bromberg et al.   BIOINFORMATICS

Proportionally more deleterious genetic variation in European than in African populations

(2008) Kirk E. Lohmueller et al.   NATURE

McKusick's Online Mendelian Inheritance in Man (OMIM(R))

(2008) J. Amberger et al.   NUCLEIC ACIDS RESEARCH

PDBsum new things

(2008) R. A. Laskowski   NUCLEIC ACIDS RESEARCH