Frequency and clinical significance of chromosomal inversions prenatally diagnosed by second trimester amniocentesis.
PMID:35140290
InvertypeR: Bayesian inversion genotyping with Strand-seq data.
PMID:34332539
Identifying chromosomal subpopulations based on their recombination histories advances the study of the genetic basis of phenotypic traits.
PMID:33203765
Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR.
PMID:32424072
The molecular genealogy of sequential overlapping inversions implies both homologous chromosomes of a heterokaryotype in an inversion origin.
PMID:31740730
Evolutionary and functional impact of common polymorphic inversions in the human genome.
PMID:31530810
Systematics for types and effects of DNA variations.
PMID:30591019
PopHumanScan: the online catalog of human genome adaptation.
PMID:30335169
npInv: accurate detection and genotyping of inversions using long read sub-alignment.
PMID:30001702
Global genetic differentiation of complex traits shaped by natural selection in humans.
PMID:29760457
Inversion evolutionary rates might limit the experimental identification of inversion breakpoints in non-model species.
PMID:29222501
Identification of large rearrangements in cancer genomes with barcode linked reads.
PMID:29186506
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
PMID:28965848
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
PMID:28260531
Discovery of large genomic inversions using long range information.
PMID:28073353
Characterizing polymorphic inversions in human genomes by single-cell sequencing.
PMID:27472961
An integrated map of structural variation in 2,504 human genomes.
PMID:26432246
Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript.
PMID:26427027
ScaffoldScaffolder: solving contig orientation via bidirected to directed graph reduction.
PMID:26382194
Human inversions and their functional consequences.
PMID:25998059
Following the footprints of polymorphic inversions on SNP data: from detection to association tests.
PMID:25672393
A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications.
PMID:25411581
Population genetic analysis of bi-allelic structural variants from low-coverage sequence data with an expectation-maximization algorithm.
PMID:24884587
Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.
PMID:24746958
Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.
PMID:24651690