Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations.

BACKGROUND: A large number of challenging medically relevant genes (CMRGs) are situated in complex or highly repetitive regions of the human genome, hindering comprehensive characterization of genetic variants using next-generation sequencing technologies. In this study, we employed long-read sequencing technology, extensively utilized in studying complex genomic regions, to characterize genetic alterations, including short variants (single nucleotide variants and short insertions and deletions) and copy number variations, in 370 CMRGs across 41 individuals from 19 global populations. RESULTS: Our analysis revealed high levels of genetic variants in CMRGs, with 68.73% exhibiting copy number variations and 65.20% containing short variants that may disrupt protein function across individuals. Such variants can influence pharmacogenomics, genetic disease susceptibility, and other clinical outcomes. We observed significant differences in CMRG variation across populations, with individuals of African ancestry harboring the highest number of copy number variants and short variants compared to samples from other continents. Notably, 15.79% to 33.96% of short variants were exclusively detectable through long-read sequencing. While the T2T-CHM13 reference genome significantly improved the assembly of CMRG regions, thereby facilitating variant detection in these regions, some regions still lacked resolution. CONCLUSION: Our results provide an important reference for future clinical and pharmacogenetic studies, highlighting the need for a comprehensive representation of global genetic diversity in the reference genome and improved variant calling techniques to fully resolve medically relevant genes.

Flexible Basalt Fiber/Aramid Nanofiber/Carbon Nanotube Electromagnetic Shielding Paper with Outstanding Environmental Stability and Joule Heating Performance.

In the field of electromagnetic shielding, it has become an important trend to manufacture thinner and better-performing electromagnetic interference (EMI) shielding materials. However, EMI shielding materials that are recyclable and resistant to extreme environments are of great significance for sustainable development and expanding their application areas. In this study, a composite paper with a "rebar-concrete" layered structure through the vacuum-assisted filtration approach by utilizing basalt fibers (BF) and aramid nanofibers (ANFs) with excellent temperature resistance and multiwalled carbon nanotubes with high electrical conductivity was prepared. The composite paper not only delivers a high electrical conductivity of 15.9 S cm-1 and a high electromagnetic interference shielding efficiency (EMI SE) of 24.6 dB but also exhibits a high specific shielding efficiency (SSE/t) of 12,504 dB cm2 g-1 at a thickness of 48 µm. Thanks to the excellent thermal stability of basalt fibers and aramid nanofibers, the composite paper exhibits long-term stable EMI shielding performance and structural integrity in various extreme environments, including fire, high/low temperature (-196 to 300 °C), and acid-base corrosion. Furthermore, the BF/ANF/CNT composite paper also shows excellent Joule heating performance, rapid electrothermal response, and good temperature controllability. Based on these excellent properties, the BF/ANF/CNT composite paper shows tremendous potential for practical applications to meet the requirements of various extreme environments.

A Robust, Flexible, Hydrophobic, and Multifunctional Pressure Sensor Based on an MXene/Aramid Nanofiber (ANF) Aerogel Film.

Pressure sensors with desirable flexibility, robustness, and versatility are urgently needed for complicated smart wearable devices. However, developing an ideal multifunctional flexible sensor is still challenging. In this work, a composite aerogel film sensor with an internal three-dimensional (3D) microporous and hierarchical structure is successfully fabricated by the self-assembly of aramid nanofiber (ANF) and conductive MXene by vacuum-assisted filtration and ice crystal growth. The resultant MXene/ANF aerogel film with a mass ratio of 3/7 (30% MAAF) presents high robustness with an outstanding tensile strength of 14.1 MPa and a modulus of 455 MPa while retaining appealing flexibility and sensitive characteristics due to the 3D microstructure. Accompanied by superior electric conductivity, the MAAF sensor performs noticeably in human motion and microexpression detection with a fast response time of 100 ms and a high sensitivity of 37.4 kPa-1. In addition, MAAF exhibits considerable thermal shielding performance based on the excellent thermostability. Moreover, it possesses prominent electrothermal property with a wide heating temperature range (32.7-242 °C) in a fast thermal response time (5 s) due to the Joule effect. Additionally, a hydrophobic SiO2 coating is introduced on the surface of MAAF to further broaden the sensing application, and the obtained MAAF@SiO2 sensor shows distinguished sensing capability underwater, which can be accurately applied to swimming monitoring. Therefore, this work provides a highly flexible, lightweight, robust, and multifunctional aerogel film sensor, showing promising potential in smart wearable sensing and healthcare devices, intelligent robots, and underwater detection.