Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript

Cellular Functions of the Amyloid Precursor Protein from Development to Dementia

(2015) Rik van der Kant et al.   DEVELOPMENTAL CELL

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

(2015) et al.   SCIENCE

A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity

(2014) Juan R. González et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Population genetic analysis of bi-allelic structural variants from low-coverage sequence data with an expectation-maximization algorithm

(2014) José Lucas-Lledó et al.   BMC BIOINFORMATICS

The Noncoding RNA Revolution—Trashing Old Rules to Forge New Ones

(2014) Thomas R. Cech et al.   CELL

Identification of small ORFs in vertebrates using ribosome footprinting and evolutionary conservation

(2014) A. A. Bazzini et al.   EMBO JOURNAL

The 8p23 Inversion Polymorphism Determines Local Recombination Heterogeneity across Human Populations

(2014) Joao M. Alves et al.   Genome Biology and Evolution

Supergenes and their role in evolution

(2014) M J Thompson et al.   HEREDITY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Inferring human population size and separation history from multiple genome sequences

(2014) Stephan Schiffels et al.   NATURE GENETICS

On the Power and the Systematic Biases of the Detection of Chromosomal Inversions by Paired-End Genome Sequencing

(2014) José Ignacio Lucas Lledó et al.   PLoS One

Sequencing of a Patient with Balanced Chromosome Abnormalities and Neurodevelopmental Disease Identifies Disruption of Multiple High Risk Loci by Structural Variation

(2014) Jonathon Blake et al.   PLoS One

Characterization of Human Pseudogene-Derived Non-Coding RNAs for Functional Potential

(2014) Xingyi Guo et al.   PLoS One

Genomic structure in Europeans dating back at least 36,200 years

(2014) A. Seguin-Orlando et al.   SCIENCE

Effects of Smoking and Shared Epitope on the Production of Anti-Citrullinated Peptide Antibody in a Japanese Adult Population

(2014) Chikashi Terao et al.   ARTHRITIS CARE & RESEARCH

Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence

(2014) Cristina Aguado et al.   PLoS Genetics

Association Between Antinuclear Antibodies and the HLA Class II Locus and Heterogeneous Characteristics of Staining Patterns: The Nagahama Study

(2014) Chikashi Terao et al.   Arthritis & Rheumatology

Deep Whole-Genome Sequencing of 100 Southeast Asian Malays

(2013) Lai-Ping Wong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KRAB-Zinc Finger Proteins: A Repressor Family Displaying Multiple Biological Functions

(2013) Angelo Lupo et al.   CURRENT GENOMICS

Population Genetics of Rare Variants and Complex Diseases

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

Prevalence of postmicturition urinary incontinence in Japanese men: Comparison with other types of incontinence

(2013) Koji Yoshimura et al.   INTERNATIONAL JOURNAL OF UROLOGY

On the accumulation of deleterious mutations during range expansions

(2013) S. Peischl et al.   MOLECULAR ECOLOGY

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

InvFEST, a database integrating information of polymorphic inversions in the human genome

(2013) Alexander Martínez-Fundichely et al.   NUCLEIC ACIDS RESEARCH

An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

(2013) D. E. Bauer et al.   SCIENCE

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner

(2012) Simone de Jong et al.   BMC GENOMICS

The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism

(2012) Maximilian P.A. Salm et al.   GENOME RESEARCH

Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome

(2012) Andy Wing Chun Pang et al.   HUMAN MUTATION

The genomic basis of adaptive evolution in threespine sticklebacks

(2012) Felicity C. Jones et al.   NATURE

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

(2012)   NATURE

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

(2012) Karyn Meltz Steinberg et al.   NATURE GENETICS

Principal Components Analysis of Population Admixture

(2012) Jianzhong Ma et al.   PLoS One

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

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

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

The Rose-comb Mutation in Chickens Constitutes a Structural Rearrangement Causing Both Altered Comb Morphology and Defective Sperm Motility

(2012) Freyja Imsland et al.   PLoS Genetics

Enhancer-adoption as a mechanism of human developmental disease

(2011) Laura A. Lettice et al.   HUMAN MUTATION

Chromosomal rearrangements maintain a polymorphic supergene controlling butterfly mimicry

(2011) Mathieu Joron et al.   NATURE

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

Genetic Flux Between H1 and H2 Haplotypes of the 17q21.31 Inversion in European Population

(2011) Libin Deng et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms

(2010) Jeffrey M. Kidd et al.   CELL

The Human Genetic History of East Asia: Weaving a Complex Tapestry

(2010) Mark Stoneking et al.   CURRENT BIOLOGY

Phenotypic variability and genetic susceptibility to genomic disorders

(2010) S. Girirajan et al.   HUMAN MOLECULAR GENETICS

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

A Widespread Chromosomal Inversion Polymorphism Contributes to a Major Life-History Transition, Local Adaptation, and Reproductive Isolation

(2010) David B. Lowry et al.   PLOS BIOLOGY

How and Why Chromosome Inversions Evolve

(2010) Mark Kirkpatrick   PLOS BIOLOGY

Simultaneous Genotype Calling and Haplotype Phasing Improves Genotype Accuracy and Reduces False-Positive Associations for Genome-wide Association Studies

(2009) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Characterization of six human disease-associated inversion polymorphisms

(2009) Francesca Antonacci et al.   HUMAN MOLECULAR GENETICS

Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

(2009) Hugo Y K Lam et al.   NATURE BIOTECHNOLOGY

Revisiting the Impact of Inversions in Evolution: From Population Genetic Markers to Drivers of Adaptive Shifts and Speciation?

(2008) Ary A. Hoffmann et al.   Annual Review of Ecology Evolution and Systematics

Role of the Tau Gene Region Chromosome Inversion in Progressive Supranuclear Palsy, Corticobasal Degeneration, and Related Disorders

(2008) Amy Webb et al.   ARCHIVES OF NEUROLOGY

A flexible forward simulator for populations subject to selection and demography

(2008) R. D. Hernandez   BIOINFORMATICS

The Chromosomal Polymorphism Linked to Variation in Social Behavior in the White-Throated Sparrow (Zonotrichia albicollis) Is a Complex Rearrangement and Suppressor of Recombination

(2008) J. W. Thomas et al.   GENETICS

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

Evolutionary toggling of the MAPT 17q21.31 inversion region

(2008) Michael C Zody et al.   NATURE GENETICS

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH