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

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

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

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

Identification of polymorphic inversions from genotypes

(2012) Alejandro Cáceres et al.   BMC BIOINFORMATICS

Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm

(2012) Jianbin Wang et al.   CELL

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

A possible mechanism for Inv22-relatedF8large deletions in severe hemophilia A patients with high responding factor VIII inhibitors

(2012) J. FUJITA et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

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

(2012)   NATURE

Database resources of the National Center for Biotechnology Information

(2012)   NUCLEIC ACIDS RESEARCH

Generation of Long Insert Pairs Using a Cre-LoxP Inverse PCR Approach

(2012) Ze Peng et al.   PLoS One

Investigation of Inversion Polymorphisms in the Human Genome Using Principal Components Analysis

(2012) Jianzhong Ma et al.   PLoS One

A High-Coverage Genome Sequence from an Archaic Denisovan Individual

(2012) M. Meyer et al.   SCIENCE

High rates of de novo 15q11q13 inversions in human spermatozoa

(2012) Òscar Molina et al.   Molecular Cytogenetics

The Many Landscapes of Recombination in Drosophila melanogaster

(2012) Josep M. Comeron et al.   PLoS Genetics

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)

(2011) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Challenges in studying genomic structural variant formation mechanisms: The short-read dilemma and beyond

(2011) Megumi Onishi-Seebacher et al.   BIOESSAYS

A Modified I-PCR to detect the factor VIII Inv22 for genetic diagnosis and prenatal diagnosis in haemophilia A

(2011) Z. H. HE et al.   HAEMOPHILIA

Eighteen Years of Molecular Genotyping the Hemophilia Inversion Hotspot: From Southern Blot to Inverse Shifting-PCR

(2011) Liliana C. Rossetti et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Identification of chromosomal breakpoints of cancer-specific translocations by rolling circle amplification and long-distance inverse PCR

(2011) Jim Thorsen et al.   Cancer Genetics

Modernizing Reference Genome Assemblies

(2011) Deanna M. Church et al.   PLOS BIOLOGY

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

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

Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients

(2010) Heba Abou-Elew et al.   ANNALS OF HEMATOLOGY

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

(2010) Jeffrey M. Kidd et al.   CELL

Genetic Interference: Dont Stand So Close to Me

(2010) Luke Berchowitz et al.   CURRENT GENOMICS

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

(2010)   NATURE

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

Inversion variants in the human genome: role in disease and genome architecture

(2010) Lars Feuk   Genome Medicine

How and Why Chromosome Inversions Evolve

(2010) Mark Kirkpatrick   PLOS BIOLOGY

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population

(2009) Miriam Entesarian et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DnaSP v5: a software for comprehensive analysis of DNA polymorphism data

(2009) P. Librado et al.   BIOINFORMATICS

The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group

(2009) S.-M. Ahn et al.   GENOME RESEARCH

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

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

Characterization of six human disease-associated inversion polymorphisms

(2009) Francesca Antonacci et al.   HUMAN MOLECULAR GENETICS

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

(2009) Donald F. Conrad et al.   NATURE

Chromosome 17: association of a large inversion polymorphism with corticosteroid response in asthma

(2009) Kelan G. Tantisira et al.   Pharmacogenetics and Genomics

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

Investigation of the origins of human autosomal inversions

(2008) N. Simon Thomas et al.   HUMAN GENETICS

Developing a new generation of tests for genotyping hemophilia-causative rearrangements involvingint22handint1hhotspots in the factor VIII gene

(2008) L. C. ROSSETTI et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

The diploid genome sequence of an Asian individual

(2008) Jun Wang et al.   NATURE

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

Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping

(2008) Daniel J. Turner et al.   NUCLEIC ACIDS RESEARCH