Characterizing polymorphic inversions in human genomes by single-cell sequencing.

Direct chromosome-length haplotyping by single-cell sequencing. Genome Res (2016) 0.77

Genetic variation: Mapping inversions in single cells. Nat Rev Genet (2016) 0.75

Single-cell template strand sequencing by Strand-seq enables the characterization of individual homologs. Nat Protoc (2017) 0.75

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biol (2017) 0.75

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. Am J Hum Genet (2017) 0.75

The human genome browser at UCSC. Genome Res (2002) 168.23

An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82

BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics (2010) 53.23

Circos: an information aesthetic for comparative genomics. Genome Res (2009) 40.02

Paired-end mapping reveals extensive structural variation in the human genome. Science (2007) 30.46

Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28

The variant call format and VCFtools. Bioinformatics (2011) 25.88

Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31

Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature (2008) 20.31

A common inversion under selection in Europeans. Nat Genet (2005) 13.66

Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55

A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet (2006) 8.61

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44

Software for computing and annotating genomic ranges. PLoS Comput Biol (2013) 8.20

The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. Genome Res (2009) 7.87

Structural variation in the human genome and its role in disease. Annu Rev Med (2010) 7.85

Genome structural variation discovery and genotyping. Nat Rev Genet (2011) 7.34

The UCSC Genome Browser database: 2014 update. Nucleic Acids Res (2013) 6.54

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet (2006) 5.59

Pathological roles of MAPK signaling pathways in human diseases. Biochim Biophys Acta (2010) 4.99

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet (2001) 4.58

Mechanisms for human genomic rearrangements. Pathogenetics (2008) 4.54

The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res (2013) 4.42

Segmental duplications and the evolution of the primate genome. Nat Rev Genet (2002) 4.16

Isolation of single human hematopoietic stem cells capable of long-term multilineage engraftment. Science (2011) 3.89

Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet (2008) 3.42

An integrated map of structural variation in 2,504 human genomes. Nature (2015) 3.30

A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell (2010) 3.22

Segmental duplications: an 'expanding' role in genomic instability and disease. Nat Rev Genet (2001) 3.17

Resolving the complexity of the human genome using single-molecule sequencing. Nature (2014) 2.96

Hotspots of mammalian chromosomal evolution. Genome Biol (2004) 2.92

Towards a comprehensive structural variation map of an individual human genome. Genome Biol (2010) 2.79

A genomic view of mosaicism and human disease. Nat Rev Genet (2013) 2.67

High-resolution human genome structure by single-molecule analysis. Proc Natl Acad Sci U S A (2010) 2.47

Single cell genomics: advances and future perspectives. PLoS Genet (2014) 2.16

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies. PLoS Genet (2005) 2.05

Characterization of six human disease-associated inversion polymorphisms. Hum Mol Genet (2009) 2.00

DNA template strand sequencing of single-cells maps genomic rearrangements at high resolution. Nat Methods (2012) 1.85

A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. Mol Biol Evol (2005) 1.71

Idiographica: a general-purpose web application to build idiograms on-demand for human, mouse and rat. Bioinformatics (2007) 1.60

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59

Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet (1995) 1.37

Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1. Genome Res (2008) 1.35

Assaying chromosomal inversions by single-molecule haplotyping. Nat Methods (2006) 1.34

The distribution and most recent common ancestor of the 17q21 inversion in humans. Am J Hum Genet (2010) 1.31

Evidence for large inversion polymorphisms in the human genome from HapMap data. Genome Res (2006) 1.29

DUF1220-domain copy number implicated in human brain-size pathology and evolution. Am J Hum Genet (2012) 1.28

Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. Am J Med Genet C Semin Med Genet (2010) 1.22

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res (2013) 1.21

The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism. Genome Res (2012) 1.14

Flow cytometric analysis of bromodeoxyuridine-substituted cells stained with 33258 Hoechst. J Histochem Cytochem (1977) 1.11

Cytokine-induced selective expansion and maturation of erythroid versus myeloid progenitors from purified cord blood precursor cells. Blood (1993) 1.10

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms. Am J Med Genet A (2008) 1.08

Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication. Genome Biol (2008) 1.04

InvFEST, a database integrating information of polymorphic inversions in the human genome. Nucleic Acids Res (2013) 1.03

Inversion variants in the human genome: role in disease and genome architecture. Genome Med (2010) 1.01

Isolation and characterization of a novel TP53-inducible gene, TP53TG3. Genes Chromosomes Cancer (1999) 0.95

A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. Am J Med Genet A (2004) 0.93

Characterization of structural variants with single molecule and hybrid sequencing approaches. Bioinformatics (2014) 0.92

Testing departure from Hardy-Weinberg proportions. Methods Mol Biol (2012) 0.88

Following the footprints of polymorphic inversions on SNP data: from detection to association tests. Nucleic Acids Res (2015) 0.87

BAIT: Organizing genomes and mapping rearrangements in single cells. Genome Med (2013) 0.84

On the structural plasticity of the human genome: chromosomal inversions revisited. Curr Genomics (2012) 0.82

The 8p23 inversion polymorphism determines local recombination heterogeneity across human populations. Genome Biol Evol (2014) 0.81

NBPF1, a tumor suppressor candidate in neuroblastoma, exerts growth inhibitory effects by inducing a G1 cell cycle arrest. BMC Cancer (2015) 0.81