Estimating the mutation load in human genomes

No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans

(2015) Ron Do et al.   NATURE GENETICS

Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

(2014) Holly K. Tabor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

The distribution of deleterious genetic variation in human populations

(2014) Kirk E Lohmueller   CURRENT OPINION IN GENETICS & DEVELOPMENT

Impact of range expansions on current human genomic diversity

(2014) Vitor Sousa et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review

(2014) Robert P. Erickson et al.   JOURNAL OF APPLIED GENETICS

The deleterious mutation load is insensitive to recent population history

(2014) Yuval B Simons et al.   NATURE GENETICS

The Impact of Population Demography and Selection on the Genetic Architecture of Complex Traits

(2014) Kirk E. Lohmueller   PLoS Genetics

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Demography and the Age of Rare Variants

(2014) Iain Mathieson et al.   PLoS Genetics

Long Runs of Homozygosity Are Enriched for Deleterious Variation

(2013) Zachary A. Szpiech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Modeling Recent Human Evolution in Mice by Expression of a Selected EDAR Variant

(2013) Yana G. Kamberov et al.   CELL

Population Growth Inflates the Per-Individual Number of Deleterious Mutations and Reduces Their Mean Effect

(2013) Elodie Gazave et al.   GENETICS

Population Genetics of Rare Variants and Complex Diseases

(2013) M. Cyrus Maher et al.   HUMAN HEREDITY

Surfing downhill: when should population range expansion be characterized by reductions in fitness?

(2013) Samuel M. Flaxman   MOLECULAR ECOLOGY

On the accumulation of deleterious mutations during range expansions

(2013) S. Peischl et al.   MOLECULAR ECOLOGY

Genome-wide inference of natural selection on human transcription factor binding sites

(2013) Leonardo Arbiza et al.   NATURE GENETICS

Evaluating empirical bounds on complex disease genetic architecture

(2013) Vineeta Agarwala et al.   NATURE GENETICS

Childhood Anemia at High Altitude: Risk Factors for Poor Outcomes in Severe Pneumonia

(2013) P. P. Moschovis et al.   PEDIATRICS

Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans

(2013) Ferran Casals et al.   PLoS Genetics

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

(2012) Yali Xue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation Load: The Fitness of Individuals in Populations Where Deleterious Alleles Are Abundant

(2012) Aneil F. Agrawal et al.   Annual Review of Ecology Evolution and Systematics

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

(2012) Wenqing Fu et al.   NATURE

Rare and common variants: twenty arguments

(2012) Greg Gibson   NATURE REVIEWS GENETICS

The great human expansion

(2012) B. M. Henn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The mystery of missing heritability: Genetic interactions create phantom heritability

(2012) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

A High-Coverage Genome Sequence from an Archaic Denisovan Individual

(2012) M. Meyer et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Evidence of Inbreeding Depression on Human Height

(2012) Ruth McQuillan et al.   PLoS Genetics

Fitness Landscapes: An Alternative Theory for the Dominance of Mutation

(2011) Federico Manna et al.   GENETICS

An Early Divergence of KhoeSan Ancestors from Those of Other Modern Humans Is Supported by an ABC-Based Analysis of Autosomal Resequencing Data

(2011) Krishna R. Veeramah et al.   MOLECULAR BIOLOGY AND EVOLUTION

Inference of human population history from individual whole-genome sequences

(2011) Heng Li et al.   NATURE

Bayesian inference of ancient human demography from individual genome sequences

(2011) Ilan Gronau et al.   NATURE GENETICS

Hunter-gatherer genomic diversity suggests a southern African origin for modern humans

(2011) B. M. Henn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Rapid, global demographic expansions after the origins of agriculture

(2011) C. R. Gignoux et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Classic Selective Sweeps Were Rare in Recent Human Evolution

(2011) R. D. Hernandez et al.   SCIENCE

Deep Human Genealogies Reveal a Selective Advantage to Be on an Expanding Wave Front

(2011) C. Moreau et al.   SCIENCE

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

Inferences About the Distribution of Dominance Drawn From Yeast Gene Knockout Data

(2010) A. F. Agrawal et al.   GENETICS

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

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

Fine-scale population structure and the era of next-generation sequencing

(2010) B. M. Henn et al.   HUMAN MOLECULAR GENETICS

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

Formulating a Historical and Demographic Model of Recent Human Evolution Based on Resequencing Data from Noncoding Regions

(2010) Guillaume Laval et al.   PLoS One

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

(2010) Alex Coventry et al.   Nature Communications

The genetics of inbreeding depression

(2009) Deborah Charlesworth et al.   NATURE REVIEWS GENETICS

Explaining worldwide patterns of human genetic variation using a coalescent-based serial founder model of migration outward from Africa

(2009) M. DeGiorgio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Consanguinity, human evolution, and complex diseases

(2009) A. H. Bittles et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Proportionally more deleterious genetic variation in European than in African populations

(2008) Kirk E. Lohmueller et al.   NATURE

A serial founder effect model for human settlement out of Africa

(2008) O. Deshpande et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

(2008) J. Z. Li et al.   SCIENCE

Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome

(2008) Adam R. Boyko et al.   PLoS Genetics