On the public citation graph
Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR
0 signed · 87 inferred · view as graph
Inferred edges come from two machine sources: sweeps of open repository metadata (mostly SSRN and Zenodo), and a bulk OpenAlex citation snapshot. Every row below is labelled with the one it came from. Neither is a complete citation index — absence here is not evidence of absence.
Is this your work? Sign in with ORCID and put your name on the
claims that are yours.
Reference health. See whether every reference in this work resolves to a
known work and none has been retracted — and get a dated CiteStamped
badge you can embed.
What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1001/archneur.65.11.1473openalex-snapshot
Role of the Tau Gene Region Chromosome Inversion in Progressive Supranuclear Palsy, Corticobasal Degeneration, and Related Disorders
inferredcites →https://doi.org/10.1002/ana.21157openalex-snapshot
Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease
inferredcites →https://doi.org/10.1002/humu.20457openalex-snapshot
Extensive gene conversion at thePMS2DNA mismatch repair locus
inferredcites →https://doi.org/10.1007/s40291-017-0278-8openalex-snapshot
Current and Emerging Applications of Droplet Digital PCR in Oncology
inferredcites →https://doi.org/10.1016/j.ajhg.2011.09.009openalex-snapshot
Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over
inferredcites →https://doi.org/10.1016/j.ajhg.2014.01.015openalex-snapshot
A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity
inferredcites →https://doi.org/10.1016/j.cell.2018.12.019openalex-snapshot
Characterizing the Major Structural Variant Alleles of the Human Genome
inferredcites →https://doi.org/10.1021/ac403061nopenalex-snapshot
Multiplexed Target Detection Using DNA-Binding Dye Chemistry in Droplet Digital PCR
inferredcites →https://doi.org/10.1038/ejhg.2015.190openalex-snapshot
FAPI: Fast and accurate P-value Imputation for genome-wide association study
inferredcites →https://doi.org/10.1038/nature03187openalex-snapshot
The sequence and analysis of duplication-rich human chromosome 16
inferredcites →https://doi.org/10.1038/nature06862openalex-snapshot
Mapping and sequencing of structural variation from eight human genomes
inferredcites →https://doi.org/10.1038/nature10341openalex-snapshot
Chromosomal rearrangements maintain a polymorphic supergene controlling butterfly mimicry
inferredcites →https://doi.org/10.1038/nature10944openalex-snapshot
The genomic basis of adaptive evolution in threespine sticklebacks
inferredcites →https://doi.org/10.1038/nature12531openalex-snapshot
Transcriptome and genome sequencing uncovers functional variation in humans
inferredcites →https://doi.org/10.1038/nature15393openalex-snapshot
A global reference for human genetic variation
inferredcites →https://doi.org/10.1038/nature15394openalex-snapshot
An integrated map of structural variation in 2,504 human genomes
inferredcites →https://doi.org/10.1038/nature24277openalex-snapshot
Genetic effects on gene expression across human tissues
inferredcites →https://doi.org/10.1038/ncomms12989openalex-snapshot
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
inferredcites →https://doi.org/10.1038/ncomms14994openalex-snapshot
Refined genetic maps reveal sexual dimorphism in human meiotic recombination at multiple scales
inferredcites →https://doi.org/10.1038/ng.213openalex-snapshot
A common sequence motif associated with recombination hot spots and genome instability in humans
inferredcites →https://doi.org/10.1038/ng.2334openalex-snapshot
Structural haplotypes and recent evolution of the human 17q21.31 region
inferredcites →https://doi.org/10.1038/ng.2335openalex-snapshot
Structural diversity and African origin of the 17q21.31 inversion polymorphism
inferredcites →https://doi.org/10.1038/ng.2653openalex-snapshot
The Genotype-Tissue Expression (GTEx) project
inferredcites →https://doi.org/10.1038/ng.3200openalex-snapshot
Large multiallelic copy number variations in humans
inferredcites →https://doi.org/10.1038/ng.3510openalex-snapshot
Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels
inferredcites →https://doi.org/10.1038/ng.3559openalex-snapshot
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
inferredcites →https://doi.org/10.1038/ng.944openalex-snapshot
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
inferredcites →https://doi.org/10.1038/ng0597-96openalex-snapshot
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
inferredcites →https://doi.org/10.1038/ng1508openalex-snapshot
A common inversion under selection in Europeans
inferredcites →https://doi.org/10.1038/ng1754openalex-snapshot
High mutation rates have driven extensive structural polymorphism among human Y chromosomes
inferredcites →https://doi.org/10.1038/nmeth.2633openalex-snapshot
Absolute quantification by droplet digital PCR versus analog real-time PCR
inferredcites →https://doi.org/10.1038/nmeth881openalex-snapshot
Assaying chromosomal inversions by single-molecule haplotyping
inferredcites →https://doi.org/10.1038/nprot.2009.184openalex-snapshot
High-throughput haplotype determination over long distances by haplotype fusion PCR and ligation haplotyping
inferredcites →https://doi.org/10.1038/nprot.2011.457openalex-snapshot
Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses
inferredcites →https://doi.org/10.1038/s41467-018-08148-zopenalex-snapshot
Multi-platform discovery of haplotype-resolved structural variation in human genomes
inferredcites →https://doi.org/10.1038/s41467-019-08992-7openalex-snapshot
Genome maps across 26 human populations reveal population-specific patterns of structural variation
inferredcites →https://doi.org/10.1038/s41467-019-12173-xopenalex-snapshot
Evolutionary and functional impact of common polymorphic inversions in the human genome
inferredcites →https://doi.org/10.1086/519795openalex-snapshot
PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
inferredcites →https://doi.org/10.1093/bfgp/elv020openalex-snapshot
Human inversions and their functional consequences
inferredcites →https://doi.org/10.1093/bioinformatics/btr330openalex-snapshot
The variant call format and VCFtools
inferredcites →https://doi.org/10.1093/bioinformatics/bts632openalex-snapshot
Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold
inferredcites →https://doi.org/10.1093/bioinformatics/bts635openalex-snapshot
STAR: ultrafast universal RNA-seq aligner
inferredcites →https://doi.org/10.1093/bioinformatics/btv722openalex-snapshot
Fast and efficient QTL mapper for thousands of molecular phenotypes
inferredcites →https://doi.org/10.1093/gbe/evv214openalex-snapshot
Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism
inferredcites →https://doi.org/10.1093/hmg/10.22.2557openalex-snapshot
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
inferredcites →https://doi.org/10.1093/hmg/4.4.615openalex-snapshot
Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome
inferredcites →https://doi.org/10.1093/hmg/ddi241openalex-snapshot
The H1c haplotype at the MAPT locus is associated with Alzheimer's disease
inferredcites →https://doi.org/10.1093/hmg/ddp187openalex-snapshot
Characterization of six human disease-associated inversion polymorphisms
inferredcites →https://doi.org/10.1093/hmg/ddr556openalex-snapshot
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
inferredcites →https://doi.org/10.1093/hmg/ddw415openalex-snapshot
Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution
inferredcites →https://doi.org/10.1093/nar/gkt1122openalex-snapshot
InvFEST, a database integrating information of polymorphic inversions in the human genome
inferredcites →https://doi.org/10.1093/nar/gkv073openalex-snapshot
Following the footprints of polymorphic inversions on SNP data: from detection to association tests
inferredcites →https://doi.org/10.1093/nar/gkw1133openalex-snapshot
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
inferredcites →https://doi.org/10.1101/578674openalex-snapshot
An open resource of structural variation for medical and population genetics
inferredcites →https://doi.org/10.1101/gr.126037.111openalex-snapshot
The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism
inferredcites →https://doi.org/10.1101/gr.135350.111openalex-snapshot
GENCODE: The reference human genome annotation for The ENCODE Project
inferredcites →https://doi.org/10.1101/gr.201160.115openalex-snapshot
Characterizing polymorphic inversions in human genomes by single-cell sequencing
inferredcites →https://doi.org/10.1101/gr.214007.116openalex-snapshot
Discovery and genotyping of structural variation from long-read haploid genome sequence data
inferredcites →https://doi.org/10.1111/jth.13144openalex-snapshot
Complexity and diversity of F8 genetic variations in the 1000 genomes
inferredcites →https://doi.org/10.1126/science.1072047openalex-snapshot
Recent Segmental Duplications in the Human Genome
inferredcites →https://doi.org/10.1126/science.1109523openalex-snapshot
A Rapid Shift in a Classic Clinal Pattern in Drosophila Reflecting Climate Change
inferredcites →https://doi.org/10.1146/annurev.ecolsys.39.110707.173532openalex-snapshot
Revisiting the Impact of Inversions in Evolution: From Population Genetic Markers to Drivers of Adaptive Shifts and Speciation?
inferredcites →https://doi.org/10.1158/0008-5472.can-15-1790openalex-snapshot
Identification of Novel Fusion Genes in Testicular Germ Cell Tumors
inferredcites →https://doi.org/10.1182/blood.v86.6.2206.bloodjournal8662206openalex-snapshot
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study
inferredcites →https://doi.org/10.1186/1471-2105-12-323openalex-snapshot
RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome
inferredcites →https://doi.org/10.1186/1471-2105-13-28openalex-snapshot
Identification of polymorphic inversions from genotypes
inferredcites →https://doi.org/10.1186/1471-2164-13-458openalex-snapshot
Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner
inferredcites →https://doi.org/10.1186/s12859-018-2252-9openalex-snapshot
npInv: accurate detection and genotyping of inversions using long read sub-alignment
inferredcites →https://doi.org/10.1186/s13059-017-1356-2openalex-snapshot
OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps
inferredcites →https://doi.org/10.1212/wnl.0b013e31824365e4openalex-snapshot
FLNA genomic rearrangements cause periventricular nodular heterotopia
inferredcites →https://doi.org/10.1371/journal.pbio.1000500openalex-snapshot
A Widespread Chromosomal Inversion Polymorphism Contributes to a Major Life-History Transition, Local Adaptation, and Reproductive Isolation
inferredcites →https://doi.org/10.1371/journal.pbio.1000501openalex-snapshot
How and Why Chromosome Inversions Evolve
inferredcites →https://doi.org/10.1371/journal.pgen.0010056openalex-snapshot
Discovery of Human Inversion Polymorphisms by Comparative Analysis of Human and Chimpanzee DNA Sequence Assemblies
inferredcites →https://doi.org/10.1371/journal.pgen.1004208openalex-snapshot
Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence
inferredcites →https://doi.org/10.1371/journal.pgen.1005050openalex-snapshot
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication
inferredcites →https://doi.org/10.1371/journal.pgen.1005495openalex-snapshot
Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript
inferredcites →https://doi.org/10.1371/journal.pone.0040224openalex-snapshot
Investigation of Inversion Polymorphisms in the Human Genome Using Principal Components Analysis
inferredcites →https://doi.org/10.1371/journal.pone.0055943openalex-snapshot
Highly Precise Measurement of HIV DNA by Droplet Digital PCR
inferredcites →https://doi.org/10.1371/journal.pone.0118270openalex-snapshot
A Rapid Molecular Approach for Chromosomal Phasing
inferredcites →https://doi.org/10.1371/journal.pone.0175962openalex-snapshot
Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability
inferredcites →https://doi.org/10.1373/clinchem.2017.278101openalex-snapshot
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR
inferredcites →https://doi.org/10.1534/genetics.108.088229openalex-snapshot
The Chromosomal Polymorphism Linked to Variation in Social Behavior in the White-Throated Sparrow ( Zonotrichia albicollis ) Is a Complex Rearrangement and Suppressor of Recombination
inferredcites →https://doi.org/10.32614/r.manualsopenalex-snapshot
R: A Language and Environment for Statistical Computing
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1038/s41467-022-28080-7openalex-snapshot
Correction of a Factor VIII genomic inversion with designer-recombinases
inferred← citeshttps://doi.org/10.1038/s41587-022-01377-0openalex-snapshot
Frequent aneuploidy in primary human T cells after CRISPR–Cas9 cleavage
Editorial review for independent work. ICSAC — the Institute for Complexity
Science and Advanced Computing — runs a structured editorial panel for researchers
publishing outside journals, and publishes on CiteStamp rails. Submission is free
and goes through ORCID: icsacinstitute.org/submit.