The Evolution and Functional Impact of Human Deletion Variants Shared with Archaic Hominin Genomes

Ancient human genomes suggest three ancestral populations for present-day Europeans

(2014) Iosif Lazaridis et al.   NATURE

Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA

(2014) Emilia Huerta-Sánchez et al.   NATURE

The genomic landscape of Neanderthal ancestry in present-day humans

(2014) Sriram Sankararaman et al.   NATURE

The impact of whole-genome sequencing on the reconstruction of human population history

(2014) Krishna R. Veeramah et al.   NATURE REVIEWS GENETICS

Patterns of coding variation in the complete exomes of three Neandertals

(2014) S. Castellano et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Resurrecting Surviving Neandertal Lineages from Modern Human Genomes

(2014) B. Vernot et al.   SCIENCE

A Model-Based Approach for Identifying Signatures of Ancient Balancing Selection in Genetic Data

(2014) Michael DeGiorgio et al.   PLoS Genetics

Higher Levels of Neanderthal Ancestry in East Asians than in Europeans

(2013) Jeffrey D. Wall et al.   GENETICS

Balancing Selection on a Regulatory Region Exhibiting Ancient Variation That Predates Human–Neandertal Divergence

(2013) Omer Gokcumen et al.   PLoS Genetics

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

(2012)   NATURE

A High-Coverage Genome Sequence from an Archaic Denisovan Individual

(2012) M. Meyer et al.   SCIENCE

Subsampling methods for genomic inference

(2011) Peter J. Bickel et al.   Annals of Applied Statistics

The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight

(2011) Raja Padidela et al.   CLINICAL ENDOCRINOLOGY

Human-specific loss of regulatory DNA and the evolution of human-specific traits

(2011) Cory Y. McLean et al.   NATURE

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

Archaic human ancestry in East Asia

(2011) P. Skoglund et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Strong reproductive isolation between humans and Neanderthals inferred from observed patterns of introgression

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

Genetic evidence for archaic admixture in Africa

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

Refinement of primate copy number variation hotspots identifies candidate genomic regions evolving under positive selection

(2011) Omer Gokcumen et al.   GENOME BIOLOGY

The Exon 3 Deleted Growth Hormone Receptor Gene Is Associated with Small Birth Size and Early Pubertal Onset in Healthy Boys

(2010) Kaspar Sørensen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic history of an archaic hominin group from Denisova Cave in Siberia

(2010) David Reich et al.   NATURE

A Draft Sequence of the Neandertal Genome

(2010) R. E. Green et al.   SCIENCE

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

(2010) Jeremy Goecks et al.   GENOME BIOLOGY

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Integrated Genome Browser: free software for distribution and exploration of genome-scale datasets

(2009) J. W. Nicol et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Copy-number variations (CNVs) of the human sex steroid metabolizing genesUGT2B17andUGT2B28and their associations with aUGT2B15functional polymorphism

(2009) Vincent Ménard et al.   HUMAN MUTATION

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

(2009) Rafael de Cid et al.   NATURE GENETICS

Adaptive Evolution of UGT2B17 Copy-Number Variation

(2008) Yali Xue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of Chimpanzee History Based on Genome Sequence Alignments

(2008) Jennifer L. Caswell et al.   PLoS Genetics

The signature of long-standing balancing selection at the human defensin β-1 promoter

(2008) Rachele Cagliani et al.   GENOME BIOLOGY