Identification of cis-suppression of human disease mutations by comparative genomics

The genetics of speciation: are complex incompatibilities easier to evolve?

(2014) C. Fraïsse et al.   JOURNAL OF EVOLUTIONARY BIOLOGY

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

(2013) Gea Beunders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Should evolutionary geneticists worry about higher-order epistasis?

(2013) Daniel M Weinreich et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Comparative genomics as a tool to understand evolution and disease

(2013) J. Alfoldi et al.   GENOME RESEARCH

The role of epistasis in protein evolution

(2013) David M. McCandlish et al.   NATURE

Genetic incompatibilities are widespread within species

(2013) Russell B. Corbett-Detig et al.   NATURE

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

The UCSC Genome Browser database: 2014 update

(2013) Donna Karolchik et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2014

(2013) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

An integrative variant analysis suite for whole exome next-generation sequencing data

(2012) Danny Challis et al.   BMC BIOINFORMATICS

Estimating the Rate of Irreversibility in Protein Evolution

(2012) Onuralp Soylemez et al.   Genome Biology and Evolution

Epistasis as the primary factor in molecular evolution

(2012) Michael S. Breen et al.   NATURE

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

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

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

Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes

(2012) John R. Giudicessi et al.   Translational Research

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

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

Diminishing Returns Epistasis Among Beneficial Mutations Decelerates Adaptation

(2011) H.-H. Chou et al.   SCIENCE

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

(2011) Matthew N Bainbridge et al.   GENOME BIOLOGY

Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar

(2010) Anaïs Mottaz et al.   BIOINFORMATICS

Sequence space and the ongoing expansion of the protein universe

(2010) Inna S. Povolotskaya et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

Model-based prediction of sequence alignment quality

(2008) Virpi Ahola et al.   BIOINFORMATICS