Human Genetic Individuality

Human Copy Number Variation and Complex Genetic Disease

(2011) Santhosh Girirajan et al.   Annual Review of Genetics

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Melanocortin MC1 receptor in human genetics and model systems

(2011) Kimberley A. Beaumont et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

The −14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1α binding site and increases lactase promoter activity

(2011) Tine G. K. Jensen et al.   HUMAN GENETICS

A global view of the OCA2-HERC2 region and pigmentation

(2011) Michael P. Donnelly et al.   HUMAN GENETICS

Evolution of Functionally Diverse Alleles Associated with PTC Bitter Taste Sensitivity in Africa

(2011) M. C. Campbell et al.   MOLECULAR BIOLOGY AND EVOLUTION

Inference of human population history from individual whole-genome sequences

(2011) Heng Li et al.   NATURE

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

(2011) Georg B. Ehret et al.   NATURE

Human metabolic individuality in biomedical and pharmaceutical research

(2011) Karsten Suhre et al.   NATURE

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE GENETICS

Whole-genome sequencing data offer insights into human demography

(2011) Jonathan K Pritchard   NATURE GENETICS

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

Bayesian inference of ancient human demography from individual genome sequences

(2011) Ilan Gronau et al.   NATURE GENETICS

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE 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

What Does a "Normal" Human Genome Look Like?

(2011) M. V. Olson   SCIENCE

Classic Selective Sweeps Were Rare in Recent Human Evolution

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

The global distribution of the Duffy blood group

(2011) Rosalind E. Howes et al.   Nature Communications

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

(2011) Santhosh Girirajan et al.   PLoS Genetics

Signatures of Environmental Genetic Adaptation Pinpoint Pathogens as the Main Selective Pressure through Human Evolution

(2011) Matteo Fumagalli et al.   PLoS Genetics

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

(2010) Philip Awadalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A worldwide correlation of lactase persistence phenotype and genotypes

(2010) Yuval Itan et al.   BMC EVOLUTIONARY BIOLOGY

The Genetics of Human Adaptation: Hard Sweeps, Soft Sweeps, and Polygenic Adaptation

(2010) Jonathan K. Pritchard et al.   CURRENT BIOLOGY

Mechanisms of genetically-based resistance to malaria

(2010) Carolina López et al.   GENE

Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene

(2010) R. Cagliani et al.   HUMAN GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers 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

Rate, molecular spectrum, and consequences of human mutation

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

Human skin pigmentation as an adaptation to UV radiation

(2010) N. G. Jablonski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

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

(2010) Alex Coventry et al.   Nature Communications

Association of the OCA2 Polymorphism His615Arg with Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation

(2010) Melissa Edwards et al.   PLoS Genetics

Signals of recent positive selection in a worldwide sample of human populations

(2009) J. K. Pickrell et al.   GENOME RESEARCH

Molecular genetics of human pigmentation diversity

(2009) R. A. Sturm   HUMAN MOLECULAR GENETICS

Multiple Pigmentation Gene Polymorphisms Account for a Substantial Proportion of Risk of Cutaneous Malignant Melanoma

(2009) David L. Duffy et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Multiple Rare Variants as a Cause of a Common Phenotype: Several Different Lactase Persistence Associated Alleles in a Single Ethnic Group

(2009) Catherine J. E. Ingram et al.   JOURNAL OF MOLECULAR EVOLUTION

Distributions of Selectively Constrained Sites and Deleterious Mutation Rates in the Hominid and Murid Genomes

(2009) L. Eory et al.   MOLECULAR BIOLOGY AND EVOLUTION

Targets of Balancing Selection in the Human Genome

(2009) A. M. Andres et al.   MOLECULAR BIOLOGY AND EVOLUTION

A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure

(2009) Simon Mead et al.   NEW ENGLAND JOURNAL OF MEDICINE

A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European Americans

(2009) Anna C Need et al.   GENOME BIOLOGY

A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

(2008) Richard A. Sturm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Widespread balancing selection and pathogen-driven selection at blood group antigen genes

(2008) M. Fumagalli et al.   GENOME RESEARCH

Evolutionary dynamics of the human ABO gene

(2008) Francesc Calafell et al.   HUMAN GENETICS

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

(2008) Hans Eiberg et al.   HUMAN GENETICS

Genome-wide association studies: potential next steps on a genetic journey

(2008) M. I. McCarthy et al.   HUMAN MOLECULAR GENETICS

Thrifty genes for obesity, an attractive but flawed idea and an alternative perspective: the ‘drifty gene’ hypothesis

(2008) J R Speakman   INTERNATIONAL JOURNAL OF OBESITY

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

(2008) Weizhen Ji et al.   NATURE GENETICS

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE