Evolutionary and functional impact of common polymorphic inversions in the human genome

Characterizing the Major Structural Variant Alleles of the Human Genome

(2019) Peter A. Audano et al.   CELL

Multi-platform discovery of haplotype-resolved structural variation in human genomes

(2019) Mark J. P. Chaisson et al.   Nature Communications

npInv: accurate detection and genotyping of inversions using long read sub-alignment

(2018) Haojing Shao et al.   BMC BIOINFORMATICS

Signatures of Long-Term Balancing Selection in Human Genomes

(2018) Bárbara D Bitarello et al.   Genome Biology and Evolution

Inversion variants in human and primate genomes

(2018) Claudia Rita Catacchio et al.   GENOME RESEARCH

Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response

(2018) Kaur Alasoo et al.   NATURE GENETICS

The neutral frequency spectrum of linked sites

(2018) Luca Ferretti et al.   THEORETICAL POPULATION BIOLOGY

Eco-Evolutionary Genomics of Chromosomal Inversions

(2018) Maren Wellenreuther et al.   TRENDS IN ECOLOGY & EVOLUTION

Genomic atlas of the human plasma proteome

(2018) Benjamin B. Sun et al.   NATURE

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Diversity in non-repetitive human sequences not found in the reference genome

(2017) Birte Kehr et al.   NATURE GENETICS

The impact of structural variation on human gene expression

(2017) Colby Chiang et al.   NATURE GENETICS

A complete tool set for molecular QTL discovery and analysis

(2017) Olivier Delaneau et al.   Nature Communications

Genetic Ancestry and Natural Selection Drive Population Differences in Immune Responses to Pathogens

(2016) Yohann Nédélec et al.   CELL

Characterizing polymorphic inversions in human genomes by single-cell sequencing

(2016) Ashley D. Sanders et al.   GENOME RESEARCH

Discovery and genotyping of structural variation from long-read haploid genome sequence data

(2016) John Huddleston et al.   GENOME RESEARCH

Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses

(2016) Aysu Okbay et al.   NATURE GENETICS

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

(2016) G David Poznik et al.   NATURE GENETICS

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

(2016) Jayne Y. Hehir-Kwa et al.   Nature Communications

Human inversions and their functional consequences

(2015) Marta Puig et al.   Briefings in Functional Genomics

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

(2015) Peter H. Sudmant et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

The landscape of long noncoding RNAs in the human transcriptome

(2015) Matthew K Iyer et al.   NATURE GENETICS

Abundant contribution of short tandem repeats to gene expression variation in humans

(2015) Melissa Gymrek et al.   NATURE GENETICS

Large multiallelic copy number variations in humans

(2015) Robert E Handsaker et al.   NATURE GENETICS

GWASdb v2: an update database for human genetic variants identified by genome-wide association studies

(2015) Mulin Jun Li et al.   NUCLEIC ACIDS RESEARCH

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

(2015) Marta Puig et al.   PLoS Genetics

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

Overrepresentation of Glutamate Signaling in Alzheimer's Disease: Network-Based Pathway Enrichment Using Meta-Analysis of Genome-Wide Association Studies

(2014) Eduardo Pérez-Palma et al.   PLoS One

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

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

The complete genome sequence of a Neanderthal from the Altai Mountains

(2013) Kay Prüfer et al.   NATURE

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

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

Recombination Dynamics of a Human Y-Chromosomal Palindrome: Rapid GC-Biased Gene Conversion, Multi-kilobase Conversion Tracts, and Rare Inversions

(2013) Pille Hallast et al.   PLoS Genetics

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

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

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow 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

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

(2012)   NATURE

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

Population Genomics of Inversion Polymorphisms in Drosophila melanogaster

(2012) Russell B. Corbett-Detig et al.   PLoS Genetics

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

(2011) Bo Li et al.   BMC BIOINFORMATICS

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

Optimal Neutrality Tests Based on the Frequency Spectrum

(2010) Luca Ferretti et al.   GENETICS

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

How and Why Chromosome Inversions Evolve

(2010) Mark Kirkpatrick   PLOS BIOLOGY

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Characterization of six human disease-associated inversion polymorphisms

(2009) Francesca Antonacci et al.   HUMAN MOLECULAR GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

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

Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project

(2008) Roger Horton et al.   IMMUNOGENETICS

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE