The evolution and population diversity of human-specific segmental duplications

Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy

(2016) Aspasia Destouni et al.   GENOME RESEARCH

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

(2016) Xander Nuttle et al.   NATURE

Epigenomic annotation of gene regulatory alterations during evolution of the primate brain

(2016) Marit W Vermunt et al.   NATURE NEUROSCIENCE

Interlocus gene conversion explains at least 2.7 % of single nucleotide variants in human segmental duplications

(2015) Beth L. Dumont   BMC GENOMICS

Enhancer Divergence and cis-Regulatory Evolution in the Human and Chimp Neural Crest

(2015) Sara L. Prescott et al.   CELL

Human-Chimpanzee Differences in a FZD8 Enhancer Alter Cell-Cycle Dynamics in the Developing Neocortex

(2015) J. Lomax Boyd et al.   CURRENT BIOLOGY

TRP channel–associated factors are a novel protein family that regulates TRPM8 trafficking and activity

(2015) Dimitra Gkika et al.   JOURNAL OF CELL BIOLOGY

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

Global diversity, population stratification, and selection of human copy-number variation

(2015) Peter H. Sudmant et al.   SCIENCE

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion

(2015) M. Florio et al.   SCIENCE

A panel of induced pluripotent stem cells from chimpanzees: a resource for comparative functional genomics

(2015) Irene Gallego Romero et al.   eLife

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

(2014) Evan A. Boyle et al.   BIOINFORMATICS

Reconstructing complex regions of genomes using long-read sequencing technology

(2014) J. Huddleston et al.   GENOME RESEARCH

Evolutionary Origin and Human-Specific Expansion of a Cancer/Testis Antigen Gene Family

(2014) Qu Zhang et al.   MOLECULAR BIOLOGY AND EVOLUTION

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

(2014) Iosif Lazaridis et al.   NATURE

Resolving the complexity of the human genome using single-molecule sequencing

(2014) Mark J. P. Chaisson et al.   NATURE

Genome sequence of a 45,000-year-old modern human from western Siberia

(2014) Qiaomei Fu et al.   NATURE

Sailfish enables alignment-free isoform quantification from RNA-seq reads using lightweight algorithms

(2014) Rob Patro et al.   NATURE BIOTECHNOLOGY

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

(2014) Francesca Antonacci et al.   NATURE GENETICS

Ensembl 2015

(2014) Fiona Cunningham et al.   NUCLEIC ACIDS RESEARCH

The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses

(2014) Joseph D Buxbaum et al.   Molecular Autism

Evolution and diversity of copy number variation in the great ape lineage

(2013) P. H. Sudmant et al.   GENOME RESEARCH

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

(2013) J. B. Hiatt et al.   GENOME RESEARCH

MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability

(2013) K. Katoh et al.   MOLECULAR BIOLOGY AND EVOLUTION

MEGA6: Molecular Evolutionary Genetics Analysis Version 6.0

(2013) Koichiro Tamura et al.   MOLECULAR BIOLOGY AND EVOLUTION

Great ape genetic diversity and population history

(2013) Javier Prado-Martinez et al.   NATURE

The complete genome sequence of a Neanderthal from the Altai Mountains

(2013) Kay Prüfer et al.   NATURE

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

(2013) Xander Nuttle et al.   NATURE METHODS

Primate Transcript and Protein Expression Levels Evolve Under Compensatory Selection Pressures

(2013) Z. Khan et al.   SCIENCE

The role of gene conversion in preserving rearrangement hotspots in the human genome

(2013) Jeffrey A. Fawcett et al.   TRENDS IN GENETICS

Inhibition of SRGAP2 Function by Its Human-Specific Paralogs Induces Neoteny during Spine Maturation

(2012) Cécile Charrier et al.   CELL

Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

(2012) Megan Y. Dennis et al.   CELL

Structural diversity and African origin of the 17q21.31 inversion polymorphism

(2012) Karyn Meltz Steinberg et al.   NATURE GENETICS

Evolution of genetic and genomic features unique to the human lineage

(2012) Majesta O'Bleness et al.   NATURE REVIEWS GENETICS

A High-Coverage Genome Sequence from an Archaic Denisovan Individual

(2012) M. Meyer et al.   SCIENCE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

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

(2011) Cory Y. McLean et al.   NATURE

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

(2011) Claudia M B Carvalho et al.   NATURE GENETICS

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

(2010) Francesca Antonacci et al.   NATURE GENETICS

mrsFAST: a cache-oblivious algorithm for short-read mapping

(2010) Faraz Hach et al.   NATURE METHODS

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

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

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

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population

(2009) Bao-Yong Sha et al.   JOURNAL OF HUMAN GENETICS

A burst of segmental duplications in the genome of the African great ape ancestor

(2009) Tomas Marques-Bonet et al.   NATURE

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

DupMasker: A tool for annotating primate segmental duplications

(2008) Z. Jiang et al.   GENOME RESEARCH