Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans

Life history effects on the molecular clock of autosomes and sex chromosomes

(2016) Guy Amster et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Interpreting the Dependence of Mutation Rates on Age and Time

(2016) Ziyue Gao et al.   PLOS BIOLOGY

Approximate Sampling Formulae for General Finite-Alleles Models of Mutation

(2016) Anand Bhaskar et al.   ADVANCES IN APPLIED PROBABILITY

Efficient inference of population size histories and locus-specific mutation rates from large-sample genomic variation data

(2015) Anand Bhaskar et al.   GENOME RESEARCH

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

Genome-wide patterns and properties of de novo mutations in humans

(2015) Laurent C Francioli et al.   NATURE GENETICS

Crossovers are associated with mutation and biased gene conversion at recombination hotspots

(2015) Barbara Arbeithuber et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress

(2015) Blair R. Anderson et al.   PLoS Genetics

Determinants of Mutation Rate Variation in the Human Germline

(2014) Laure Ségurel et al.   Annual Review of Genomics and Human Genetics

Purifying Selection, Drift, and Reversible Mutation with Arbitrarily High Mutation Rates

(2014) Brian Charlesworth et al.   GENETICS

The deleterious mutation load is insensitive to recent population history

(2014) Yuval B Simons et al.   NATURE GENETICS

Distortion of genealogical properties when the sample is very large

(2014) Anand Bhaskar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

How Much of the Variation in the Mutation Rate Along the Human Genome Can Be Explained?

(2014) A. Eyre-Walker et al.   G3-Genes Genomes Genetics

Genetic Diversity in the Interference Selection Limit

(2014) Benjamin H. Good et al.   PLoS Genetics

WHY EPISTASIS IS IMPORTANT FOR SELECTION AND ADAPTATION

(2013) Thomas F. Hansen   EVOLUTION

General Triallelic Frequency Spectrum Under Demographic Models with Variable Population Size

(2013) Paul A. Jenkins et al.   GENETICS

Neutral genomic regions refine models of recent rapid human population growth

(2013) E. Gazave et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiple Instances of Ancient Balancing Selection Shared Between Humans and Chimpanzees

(2013) E. M. Leffler et al.   SCIENCE

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

Heterogeneity of the Transition/Transversion Ratio in Drosophila and Hominidae Genomes

(2012) V. B. Seplyarskiy et al.   MOLECULAR BIOLOGY AND EVOLUTION

Influence of finite-sites mutation, population subdivision and sampling schemes on patterns of nucleotide polymorphism for species with molecular hyperdiversity

(2012) ASHER D. CUTTER et al.   MOLECULAR ECOLOGY

Epistasis as the primary factor in molecular evolution

(2012) Michael S. Breen et al.   NATURE

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

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

(2012) Augustine Kong et al.   NATURE

ChromHMM: automating chromatin-state discovery and characterization

(2012) Jason Ernst 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

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants

(2012) A. Keinan et al.   SCIENCE

DO VARIATIONS IN SUBSTITUTION RATES AND MALE MUTATION BIAS CORRELATE WITH LIFE-HISTORY TRAITS? A STUDY OF 32 MAMMALIAN GENOMES

(2011) Melissa A. Wilson Sayres et al.   EVOLUTION

Mutation Rate Distribution Inferred from Coincident SNPs and Coincident Substitutions

(2011) Philip L. F. Johnson et al.   Genome Biology and Evolution

Inference of human population history from individual whole-genome sequences

(2011) Heng Li et al.   NATURE

Variation in the mutation rate across mammalian genomes

(2011) Alan Hodgkinson 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

The causes of epistasis

(2011) J. A. G. M. de Visser et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

The effect of recurrent mutation on the frequency spectrum of a segregating site and the age of an allele

(2011) Paul A. Jenkins et al.   THEORETICAL POPULATION BIOLOGY

DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines

(2011) Jordana T Bell et al.   GENOME BIOLOGY

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

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

Sequence space and the ongoing expansion of the protein universe

(2010) Inna S. Povolotskaya et al.   NATURE

Fine-scale recombination rate differences between sexes, populations and individuals

(2010) Augustine Kong et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

(2010) Gregory M Cooper et al.   NATURE METHODS

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

(2010) Alex Coventry et al.   Nature Communications

Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain

(2010) J. Raphael Gibbs et al.   PLoS Genetics

Human mutation rate associated with DNA replication timing

(2009) John A Stamatoyannopoulos et al.   NATURE GENETICS

Cryptic Variation in the Human Mutation Rate

(2009) Alan Hodgkinson et al.   PLOS BIOLOGY

Inferring the Joint Demographic History of Multiple Populations from Multidimensional SNP Frequency Data

(2009) Ryan N. Gutenkunst et al.   PLoS Genetics

Transcription-Induced Mutational Strand Bias and Its Effect on Substitution Rates in Human Genes

(2008) C. F. Mugal et al.   MOLECULAR BIOLOGY AND EVOLUTION