Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales

Characteristics of Neutral and Deleterious Protein-Coding Variation among Individuals and Populations

(2014) Wenqing Fu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The impact of RNA structure on coding sequence evolution in both bacteria and eukaryotes

(2014) Wanjun Gu et al.   BMC EVOLUTIONARY BIOLOGY

A MYLK variant regulates asthmatic inflammation via alterations in mRNA secondary structure

(2014) Ting Wang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The deleterious mutation load is insensitive to recent population history

(2014) Yuval B Simons et al.   NATURE GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Insights into RNA structure and function from genome-wide studies

(2014) Stefanie A. Mortimer et al.   NATURE REVIEWS GENETICS

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

Codon-by-Codon Modulation of Translational Speed and Accuracy Via mRNA Folding

(2014) Jian-Rong Yang et al.   PLOS BIOLOGY

Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes

(2013) Kirk E. Lohmueller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of deleterious synonymous variants in human genomes

(2013) Orion J. Buske et al.   BIOINFORMATICS

A survey of tools for variant analysis of next-generation genome sequencing data

(2013) S. Pabinger et al.   BRIEFINGS IN BIOINFORMATICS

Predicting the functional consequences of non-synonymous DNA sequence variants — evaluation of bioinformatics tools and development of a consensus strategy

(2013) Kimon Frousios et al.   GENOMICS

RNAsnp: Efficient Detection of Local RNA Secondary Structure Changes Induced by SNPs

(2013) Radhakrishnan Sabarinathan et al.   HUMAN MUTATION

High-throughput sequencing for biology and medicine

(2013) W. W. Soon et al.   Molecular Systems Biology

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

Data, information, knowledge and principle: back to metabolism in KEGG

(2013) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2014

(2013) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

Far upstream element-binding protein 1 and RNA secondary structure both mediate second-step splicing repression

(2013) H. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deciphering the rules by which 5'-UTR sequences affect protein expression in yeast

(2013) S. Dvir et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Causes and Effects of N-Terminal Codon Bias in Bacterial Genes

(2013) D. B. Goodman et al.   SCIENCE

Strong Purifying Selection at Synonymous Sites in D. melanogaster

(2013) David S. Lawrie et al.   PLoS Genetics

Exome Sequencing Followed by Large-Scale Genotyping Suggests a Limited Role for Moderately Rare Risk Factors of Strong Effect in Schizophrenia

(2012) Anna C. Need et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Quantifying harmful mutations in human populations

(2012) Sankar Subramanian   EUROPEAN JOURNAL OF HUMAN GENETICS

Selection on Synonymous Sites for Increased Accessibility around miRNA Binding Sites in Plants

(2012) Wanjun Gu et al.   MOLECULAR BIOLOGY AND EVOLUTION

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

(2012)   NATURE

Rare and common variants: twenty arguments

(2012) Greg Gibson   NATURE REVIEWS GENETICS

Sensitive measurement of single-nucleotide polymorphism-induced changes of RNA conformation: application to disease studies

(2012) Raheleh Salari et al.   NUCLEIC ACIDS RESEARCH

Regulatory Impact of RNA Secondary Structure across the Arabidopsis Transcriptome

(2012) F. Li et al.   PLANT CELL

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

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

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

DERIVED SNP ALLELES ARE USED MORE FREQUENTLY THAN ANCESTRAL ALLELES AS RISK-ASSOCIATED VARIANTS IN COMMON HUMAN DISEASES

(2012) OLGA Y. GORLOVA et al.   Journal of Bioinformatics and Computational Biology

A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans

(2011) Qianqian Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reduced stability of mRNA secondary structure near the translation-initiation site in dsDNA viruses

(2011) Tong Zhou et al.   BMC EVOLUTIONARY BIOLOGY

Determinants of translation efficiency and accuracy

(2011) H. Gingold et al.   Molecular Systems Biology

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

(2011) Hilma Holm et al.   NATURE GENETICS

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Understanding the contribution of synonymous mutations to human disease

(2011) Zuben E. Sauna et al.   NATURE REVIEWS GENETICS

Demographic history and rare allele sharing among human populations

(2011) S. Gravel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare and Common Regulatory Variation in Population-Scale Sequenced Human Genomes

(2011) Stephen B. Montgomery et al.   PLoS Genetics

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

(2010) D. L. Goode et al.   GENOME RESEARCH

Detecting Positive and Purifying Selection at Synonymous Sites in Yeast and Worm

(2010) T. Zhou et al.   MOLECULAR BIOLOGY AND EVOLUTION

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

Hints of hidden heritability in GWAS

(2010) Greg Gibson   NATURE GENETICS

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

(2010) Christopher T Johansen et al.   NATURE GENETICS

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

(2010) Gregory M Cooper et al.   NATURE METHODS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Translationally optimal codons associate with aggregation-prone sites in proteins

(2010) Yaelim Lee et al.   PROTEOMICS

A Universal Trend of Reduced mRNA Stability near the Translation-Initiation Site in Prokaryotes and Eukaryotes

(2010) Wanjun Gu et al.   PLoS Computational Biology

MicroRNAs: Target Recognition and Regulatory Functions

(2009) David P. Bartel   CELL

Translationally Optimal Codons Associate with Structurally Sensitive Sites in Proteins

(2009) T. Zhou et al.   MOLECULAR BIOLOGY AND EVOLUTION

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Human genetic variation and its contribution to complex traits

(2009) Kelly A. Frazer et al.   NATURE REVIEWS GENETICS

Transient ribosomal attenuation coordinates protein synthesis and co-translational folding

(2009) Gong Zhang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Compensatory mutations are repeatable and clustered within proteins

(2009) B. H. Davis et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Coding-Sequence Determinants of Gene Expression in Escherichia coli

(2009) G. Kudla et al.   SCIENCE

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

Selection on Codon Bias

(2008) Ruth Hershberg et al.   Annual Review of Genetics

Mistranslation-Induced Protein Misfolding as a Dominant Constraint on Coding-Sequence Evolution

(2008) D. Allan Drummond et al.   CELL

Enredo and Pecan: Genome-wide mammalian consistency-based multiple alignment with paralogs

(2008) B. Paten et al.   GENOME RESEARCH

Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: Current and developing technologies

(2008) B CHORLEY et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

(2008) Timothy J. Ley et al.   NATURE

Null mutations in human and mouse orthologs frequently result in different phenotypes

(2008) B.-Y. Liao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Population Genetics of dN/dS

(2008) Sergey Kryazhimskiy et al.   PLoS Genetics