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

Complications After Facial Injections With Permanent Fillers: Important Limitations and Considerations of MRI Evaluation

Background: Soft-tissue fillers have become more prevalent for facial augmentation in the last 2 decades, even though complications of permanent fillers can be challenging to treat. An investigative imaging tool could aid in assessing the nature and extent of these complications when clinical findings are ambiguous. Objectives: The authors analyzed the value of magnetic resonance imaging (MRI) in the assessment of delayed-onset complications after injection of patients with permanent fillers. Methods: Thirty-two patients with complications related to facial fillers were evaluated in this prospective cohort study. Their medical history was documented, and MRI was conducted before treatment of the complications. Radiologists were informed of the injection sites but were blinded to the results of other clinical evaluations. Levels of agreement between clinical and radiologic findings were calculated with the Jaccard similarity coefficient. Results: A total of 107 site-specific clinicoradiologic evaluations were analyzed. The level of agreement was assessed as strong for deposits without complications and noninflammatory nodules (combined 85%), moderate for abscesses (60%), fair for low-grade inflammations (32%), and slight for migrations (9%). Results from the MRI examinations aided in subsequent treatment decisions in 11% of cases. Conclusions: Study results show that MRI may be useful for diagnosing complications associated with fillers that have migratory potential, for depiction of the extent of deposits before treatment, and for follow-up of low-grade inflammation and abscesses after surger

Review of screw pinches in SPICA and SPIV

A survey is given of the most important characteristics of two toroidal screw-pinch experiments, one with a circular cross section - SPICA - and one with a strongly elongated cross-section - SP IV. Models for the formation of the central plasma column and its surrounding field configuration, for the MHD equilibrium and stability behaviour, and for the decay of the discharge are briefly reviewed and compared with the experimental results