Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Background: Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is often not specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic variants.

Methods: Using dedicated pipelines to address the technical challenges posed by the mtDNA - circular genome, variant heteroplasmy, and nuclear misalignment - single nucleotide variants, small indels, and large mtDNA deletions were called from exome and genome sequencing data, in addition to RNA-sequencing when available.

Enhanced non-classical electrostriction in strained tetragonal ceria.

Electrostriction is the upsurge of strain under an electric field in any dielectric material. Oxygen-defective metal oxides, such as acceptor-doped ceria, exhibit high electrostriction 10 mV values, which can be further enhanced via interface engineering at the nanoscale. This effect in ceria is "non-classical" as it arises from an intricate relation between defect-induced polarisation and local elastic distortion in the lattice.

Effects of In-Air Post Deposition Annealing Process on the Oxygen Vacancy Content in Sputtered GDC Thin Films Probed via Operando XAS and Raman Spectroscopy.

We investigate the ionic mobility in room-temperature RF-sputtered gadolinium doped ceria (GDC) thin films grown on industrial solid oxide fuel cell substrates as a function of the air-annealing at 800 and 1000 °C. The combination of X-ray diffraction, X-ray photoelectron spectroscopy, operando X-ray absorption spectroscopy, and Raman spectroscopy allows us to study the different Ce/ Ce ratios induced by the post growth annealing procedure, together with the Ce valence changes induced by different gas atmosphere exposure. Our results give evidence of different kinetics as a function of the annealing temperature, with the sample annealed at 800 °C showing marked changes of the Ce oxidation state when exposed to both reducing and oxidizing gas atmospheres at moderate temperature (300 °C), while the Ce valence is weakly affected for the 1000 °C annealed sample.

Uncovering the Lowest Thickness Limit for Room-Temperature Ferromagnetism of CrTe.

Metallic ferromagnetic transition metal dichalcogenides have emerged as important building blocks for scalable magnetic and memory applications. Downscaling such systems to the ultrathin limit is critical to integrate them into technology. Here, we achieved layer-by-layer control over the transition metal dichalcogenide CrTe by using pulsed laser deposition, and we uncovered the minimum critical thickness above which room-temperature magnetic order is maintained.

On the origin of the improved hydrogen evolution reaction in Mn- and Co-doped MoS.

In the field of hydrogen production, MoS demonstrates good catalytic properties for the hydrogen evolution reaction (HER) which improve when doped with metal cations. However, while the role of sulfur atoms as active sites in the HER is largely reported, the role of metal atoms ( molybdenum or the dopant cations) has yet to be studied in depth. To understand the role of the metal dopant, we study MoS thin films doped with Co and Mn ions.

Microbiome properties in the root nodules of a leguminous desert tree.

We conducted a comprehensive analysis of the total microbiome and transcriptionally active microbiome communities in the roots and root nodules of , an important leguminous tree in arid regions of many Asian countries. Mature trees growing in the desert did not exhibit any detected root nodules. However, we observed root nodules on the roots of growing on a desert farm and on young plants growing in a growth chamber, when inoculated with rhizosphere soil, including with rhizosphere soil from near desert tree roots that had no nodules.

Signatures of a surface spin-orbital chiral metal.

The relation between crystal symmetries, electron correlations and electronic structure steers the formation of a large array of unconventional phases of matter, including magneto-electric loop currents and chiral magnetism. The detection of such hidden orders is an important goal in condensed-matter physics. However, until now, non-standard forms of magnetism with chiral electronic ordering have been difficult to detect experimentally.

Unveiling the Electronic Structure of Pseudotetragonal WO Thin Films.

WO is a 5d compound that undergoes several structural transitions in its bulk form. Its versatility is well-documented, with a wide range of applications, such as flexopiezoelectricity, electrochromism, gating-induced phase transitions, and its ability to improve the performance of Li-based batteries. The synthesis of WO thin films holds promise in stabilizing electronic phases for practical applications.

Dual pulsed laser deposition system for the growth of complex materials and heterostructures.

Here, we present an integrated ultra-high-vacuum (UHV) apparatus for the growth of complex materials and heterostructures. The specific growth technique is the Pulsed Laser Deposition (PLD) by means of a dual-laser source based on an excimer KrF ultraviolet and solid-state Nd:YAG infra-red lasers. By taking advantage of the two laser sources-both lasers can be independently used within the deposition chambers-a large number of different materials-ranging from oxides to metals, to selenides, and others-can be successfully grown in the form of thin films and heterostructures.

Nd:YAG infrared laser as a viable alternative to excimer laser: YBCO case study.

We report on the growth and characterization of epitaxial YBa[Formula: see text]Cu[Formula: see text]O[Formula: see text] (YBCO) complex oxide thin films and related heterostructures exclusively by Pulsed Laser Deposition (PLD) and using first harmonic Nd:Y[Formula: see text]Al[Formula: see text]O[Formula: see text] (Nd:YAG) pulsed laser source ([Formula: see text] = 1064  nm). High-quality epitaxial YBCO thin film heterostructures display superconducting properties with transition temperature [Formula: see text] 80 K. Compared with the excimer lasers, when using Nd:YAG lasers, the optimal growth conditions are achieved at a large target-to-substrate distance d.

The 2022 RSV surge was driven by multiple viral lineages.

The US experienced an early and severe respiratory syncytial virus (RSV) surge in autumn 2022. Despite the pressure this has put on hospitals and care centers, the factors promoting the surge in cases are unknown. To investigate whether viral characteristics contributed to the extent or severity of the surge, we sequenced 105 RSV-positive specimens from symptomatic patients diagnosed with RSV who presented to the Massachusetts General Hospital (MGH) and its outpatient practices in the Greater Boston Area.

Engineering an inhibitor-resistant human CSF1R variant for microglia replacement.

Hematopoietic stem cell transplantation (HSCT) can replace endogenous microglia with circulation-derived macrophages but has high mortality. To mitigate the risks of HSCT and expand the potential for microglia replacement, we engineered an inhibitor-resistant CSF1R that enables robust microglia replacement. A glycine to alanine substitution at position 795 of human CSF1R (G795A) confers resistance to multiple CSF1R inhibitors, including PLX3397 and PLX5622.

Identification of microRNAs responsive to arbuscular mycorrhizal fungi in Panicum virgatum (switchgrass).

Background: MicroRNAs (miRNAs) are important post-transcriptional regulators involved in the control of a range of processes, including symbiotic interactions in plants. MiRNA involvement in arbuscular mycorrhizae (AM) symbiosis has been mainly studied in model species, and our study is the first to analyze global miRNA expression in the roots of AM colonized switchgrass (Panicum virgatum), an emerging biofuel feedstock. AM symbiosis helps plants gain mineral nutrition from the soil and may enhance switchgrass biomass production on marginal lands.

The Genome of the Mimosoid Legume , a Desert Tree.

The mimosoid legumes are a clade of ~40 genera in the Caesalpinioideae subfamily of the Fabaceae that grow in tropical and subtropical regions. Unlike the better studied Papilionoideae, there are few genomic resources within this legume group. The tree is native to the Near East and Indian subcontinent, where it thrives in very hot desert environments.

Disentangling Structural and Electronic Properties in VO Thin Films: A Genuine Nonsymmetry Breaking Mott Transition.

Phase transitions are key in determining and controlling the quantum properties of correlated materials. Here, by using the combination of material synthesis and photoelectron spectroscopy, we demonstrate a genuine Mott transition undressed of any symmetry breaking side effects in the thin films of VO. In particular and in contrast with the bulk VO, we unveil the purely electronic dynamics approaching the metal-insulator transition, disentangled from the structural transformation that is prevented by the residual substrate-induced strain.

Electronic Properties of Fully Strained La Sr MnO Thin Films Grown by Molecular Beam Epitaxy (0.15 ≤ ≤ 0.45).

The structural, electronic, and magnetic properties of Sr-hole-doped epitaxial La Sr MnO (0.15 ≤ ≤ 0.45) thin films deposited using the molecular beam epitaxy technique on 4° vicinal STO (001) substrates are probed by the combination of X-ray diffraction and various synchrotron-based spectroscopy techniques.

Transmission from vaccinated individuals in a large SARS-CoV-2 Delta variant outbreak.

An outbreak of over 1,000 COVID-19 cases in Provincetown, Massachusetts (MA), in July 2021-the first large outbreak mostly in vaccinated individuals in the US-prompted a comprehensive public health response, motivating changes to national masking recommendations and raising questions about infection and transmission among vaccinated individuals. To address these questions, we combined viral genomic and epidemiological data from 467 individuals, including 40% of outbreak-associated cases. The Delta variant accounted for 99% of cases in this dataset; it was introduced from at least 40 sources, but 83% of cases derived from a single source, likely through transmission across multiple settings over a short time rather than a single event.

Evidence of Mn-Ion Structural Displacements Correlated with Oxygen Vacancies in LaSrMnO Interfacial Dead Layers.

The properties of half-metallic manganite thin films depend on the composition and structure in the atomic scale, and consequently, their potential functional behavior can only be based on fine structure characterization. By combining advanced transmission electron microscopy, electron energy loss spectroscopy, density functional theory calculations, and multislice image simulations, we obtained evidence of a 7 nm-thick interface layer in LaSrMnO (LSMO) thin films, compatible with the formation of well-known dead layers in manganites, with an elongated out-of-plane lattice parameter and structural and electronic properties well distinguished from the bulk of the film. We observed, for the first time, a structural shift of Mn ions coupled with oxygen vacancies and a reduced Mn valence state within such layer.

Evidence of transmission from fully vaccinated individuals in a large outbreak of the SARS-CoV-2 Delta variant in Provincetown, Massachusetts.

Multiple summer events, including large indoor gatherings, in Provincetown, Massachusetts (MA), in July 2021 contributed to an outbreak of over one thousand COVID-19 cases among residents and visitors. Most cases were fully vaccinated, many of whom were also symptomatic, prompting a comprehensive public health response, motivating changes to national masking recommendations, and raising questions about infection and transmission among vaccinated individuals. To characterize the outbreak and the viral population underlying it, we combined genomic and epidemiological data from 467 individuals, including 40% of known outbreak-associated cases.

Integration of high-density genetic mapping with transcriptome analysis uncovers numerous agronomic QTL and reveals candidate genes for the control of tillering in sorghum.

Phenotypes such as branching, photoperiod sensitivity, and height were modified during plant domestication and crop improvement. Here, we perform quantitative trait locus (QTL) mapping of these and other agronomic traits in a recombinant inbred line (RIL) population derived from an interspecific cross between Sorghum propinquum and Sorghum bicolor inbred Tx7000. Using low-coverage Illumina sequencing and a bin-mapping approach, we generated ∼1920 bin markers spanning ∼875 cM.

Genome sequence and genetic diversity analysis of an under-domesticated orphan crop, white fonio (Digitaria exilis).

Background: Digitaria exilis, white fonio, is a minor but vital crop of West Africa that is valued for its resilience in hot, dry, and low-fertility environments and for the exceptional quality of its grain for human nutrition. Its success is hindered, however, by a low degree of plant breeding and improvement.

Findings: We sequenced the fonio genome with long-read SMRT-cell technology, yielding a ∼761 Mb assembly in 3,329 contigs (N50, 1.

Spectroscopic Evidence of a Dimensionality-Induced Metal-to-Insulator Transition in the Ruddlesden-Popper LaNiO Series.

Perovskite-based heterostructures have recently gained remarkable interest, thanks to atomic-scale precision engineering. These systems are very susceptible to small variations of control parameters, such as two-dimensionality, strain, lattice polarizability, and doping. Focusing on the rare-earth nickelate diagram, LaNiO (LNO) catches the eye, being the only nickelate that does not undergo a metal-to-insulator transition (MIT).

Phylogenetic analysis of SARS-CoV-2 in Boston highlights the impact of superspreading events.

Analysis of 772 complete severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) genomes from early in the Boston-area epidemic revealed numerous introductions of the virus, a small number of which led to most cases. The data revealed two superspreading events. One, in a skilled nursing facility, led to rapid transmission and significant mortality in this vulnerable population but little broader spread, whereas other introductions into the facility had little effect.