Recurrent violent injury: magnitude, risk factors, and opportunities for intervention from a statewide analysis.

INTRODUCTION: Although preventing recurrent violent injury is an important component of a public health approach to interpersonal violence and a common focus of violence intervention programs, the true incidence of recurrent violent injury is unknown. Prior studies have reported recurrence rates from 0.8% to 44%, and risk factors for recurrence are not well established. METHODS: We used a statewide, all-payer database to perform a retrospective cohort study of emergency department visits for injury due to interpersonal violence in Florida, following up patients injured in 2010 for recurrence through 2012. We assessed risk factors for recurrence with multivariable logistic regression and estimated time to recurrence with the Kaplan-Meier method. We tabulated hospital charges and costs for index and recurrent visits. RESULTS: Of 53 908 patients presenting for violent injury in 2010, 11.1% had a recurrent violent injury during the study period. Trauma centers treated 31.8%, including 55.9% of severe injuries. Among recurrers, 58.9% went to a different hospital for their second injury. Low income, homelessness, Medicaid or uninsurance, and black race were associated with increased odds of recurrence. Patients with visits for mental and behavioral health and unintentional injury also had increased odds of recurrence. Index injuries accounted for $105 million in costs, and recurrent injuries accounted for another$25.3 million. CONCLUSIONS: Recurrent violent injury is a common and costly phenomenon, and effective violence prevention programs are needed. Prevention must include the nontrauma centers where many patients seek care

On minimal coupling of the ABC-superparticle to supergravity background

By rigorous application of the Hamiltonian methods we show that the ABC-formulation of the Siegel superparticle admits consistent minimal coupling to external supergravity. The consistency check proves to involve all the supergravity constraints.Comment: 8 pages RevTex file, to appear in Phys. Rev.

Inversion polymorphism in a complete human genome assembly

The telomere-to-telomere (T2T) complete human reference has significantly improved our ability to characterize genome structural variation. To understand its impact on inversion polymorphisms, we remapped data from 41 genomes against the T2T reference genome and compared it to the GRCh38 reference. We find a ~ 21% increase in sensitivity improving mapping of 63 inversions on the T2T reference. We identify 26 misorientations within GRCh38 and show that the T2T reference is three times more likely to represent the correct orientation of the major human allele. Analysis of 10 additional samples reveals novel rare inversions at chromosomes 15q25.2, 16p11.2, 16q22.1-23.1, and 22q11.21

Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders

Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation class. By integrating multiple genomic technologies, we discover 729 inversions in 41 human genomes. Approximately 85% of inversions <2 kbp form by twin-priming during L1 retrotransposition; 80% of the larger inversions are balanced and affect twice as many nucleotides as CNVs. Balanced inversions show an excess of common variants, and 72% are flanked by segmental duplications (SDs) or retrotransposons. Since flanking repeats promote non-allelic homologous recombination, we developed complementary approaches to identify recurrent inversion formation. We describe 40 recurrent inversions encompassing 0.6% of the genome, showing inversion rates up to 2.7 × 10(-4) per locus per generation. Recurrent inversions exhibit a sex-chromosomal bias and co-localize with genomic disorder critical regions. We propose that inversion recurrence results in an elevated number of heterozygous carriers and structural SD diversity, which increases mutability in the population and predisposes specific haplotypes to disease-causing CNVs

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

Human genomes are typically assembled as consensus sequences that lack information on parental haplotypes. Here we describe a reference-free workflow for diploid de novo genome assembly that combines the chromosome-wide phasing and scaffolding capabilities of single-cell strand sequencing with continuous long-read or high-fidelity sequencing data. Employing this strategy, we produced a completely phased de novo genome assembly for each haplotype of an individual of Puerto Rican descent (HG00733) in the absence of parental data. The assemblies are accurate (quality value > 40) and highly contiguous (contig N50 > 23 Mbp) with low switch error rates (0.17%), providing fully phased single-nucleotide variants, indels and structural variants. A comparison of Oxford Nanopore Technologies and Pacific Biosciences phased assemblies identified 154 regions that are preferential sites of contig breaks, irrespective of sequencing technology or phasing algorithms

A draft human pangenome reference

Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels. Based on alignments of the assemblies, we generate a draft pangenome that captures known variants and haplotypes and reveals new alleles at structurally complex loci. We also add 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications relative to the existing reference GRCh38. Roughly 90 million of the additional base pairs are derived from structural variation. Using our draft pangenome to analyse short-read data reduced small variant discovery errors by 34% and increased the number of structural variants detected per haplotype by 104% compared with GRCh38-based workflows, which enabled the typing of the vast majority of structural variant alleles per sample