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Evan Eichler, Jay Shendure and colleagues sequenced the exomes of 20 sporadic cases of autism spectrum disorder and their unaffected parents. They identified potentially causative de novo mutations in four cases, including a frameshift in FOXP1, a splice-site mutation in GRIN2B and missense variants in SCN1A and LAMC3.

Information on past environmental conditions stored within high-altitude glaciers is being lost due to accelerated melting associated with climate change, according to ice core analysis from a Swiss glacier.

Here authors show that GDF15, a cytokine that is produced by cancer cells, prevents T cells from extravasation into the tumour microenvironment. Low availability of T cells in GDF-15-expressing tumours thus precludes effective immune therapy.

De novo assemblies of 43 Y chromosomes spanning 182,900 years of human evolution reveal considerable diversity in the size and structure of the human Y chromosome.

The Structural Variation Analysis Group of The 1000 Genomes Project reports an integrated structural variation map based on discovery and genotyping of eight major structural variation classes in 2,504 unrelated individuals from across 26 populations; structural variation is compared within and between populations and its functional impact is quantified.

Quantum neural networks could help analysing the output of quantum computers and quantum simulators of growing complexity. Here, the authors use a 7-qubit superconducting quantum processor to show how a quantum convolutional neural network can correctly recognise the phase of a quantum many-body state.

Results for the final phase of the 1000 Genomes Project are presented including whole-genome sequencing, targeted exome sequencing, and genotyping on high-density SNP arrays for 2,504 individuals across 26 populations, providing a global reference data set to support biomedical genetics.

Many insects supply secretion via small tubes or pores to the end of their legs to be able to attach to a surface. Here, inspired by nature, Xue et al.fabricate adhesive pads with porous nanorod structure for oil delivery, which give rise to a 100-fold increase in adhesivity under humid conditions.

A high-quality bonobo genome assembly provides insights into incomplete lineage sorting in hominids and its relevance to gene evolution and the genetic relationship among living hominids.

Automated reconstruction of dense neural networks in the ventral nerve cord of the fruit fly provides a resource for investigating the neural control of movement.

SPTBN1 mutations cause a neurodevelopmental syndrome characterized by intellectual disability, language and motor delays, autism, seizures and other features. The variants disrupt βII-spectrin function and disturb cytoskeletal organization and dynamics.

Reconstruction of the evolutionary history of the chromosome 16p11.2 locus and identification of bolA family member 2 (BOLA2) as a gene duplicated exclusively in Homo sapiens.

Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.

The ability to detect weak magnetic moments is important for the study of nanomagnetism and spin-based quantum technologies. Here, the authors demonstrate nanoscale spin detection with high spin sensitivity using a commercial hard drive write head.

High-coverage, ultra-long-read nanopore sequencing is used to create a new human genome assembly that improves on the coverage and accuracy of the current reference (GRCh38) and includes the gap-free, telomere-to-telomere sequence of the X chromosome.

Using All of Us pilot data, the authors compared short- and long-read performance across medically relevant genes and showcased the utility of long reads to improve variant detection and phasing in easy and hard to resolve medically relevant genes.

Constructing genome graphs directly from genome assemblies overcomes single-reference bias.

The complete, synapse-resolution connectome of the Drosophila larval mushroom body.

The goal of the 1000 Genomes Project is to provide in-depth information on variation in human genome sequences. In the pilot phase reported here, different strategies for genome-wide sequencing, using high-throughput sequencing platforms, were developed and compared. The resulting data set includes more than 95% of the currently accessible variants found in any individual, and can be used to inform association and functional studies.

X-linked adrenoleukodystophy (X-ALD) is a highly variable, progressive neurodegenerative disorder. In this study, neurofilament light chain protein (NfL) was identified as a potential early distinguishing biomarker.

Analysis of chromatin state at a single-cell level in samples of developing human forebrain demonstrate both cell-type-specific and region-specific changes during neurogenesis.

By using 17 physical qubits in a superconducting circuit to encode quantum information in a surface-code logical qubit, fast (1.1 μs) and high-performance (logical error probability of 3%) quantum error-correction cycles are demonstrated.

Neurodevelopmental disorders (NDDs) are a heterogeneous group of diseases for which the genetic basis is still unknown in more than half of the cases. Here, the authors report a NDD associated with disruptive variants in the TANC2 gene and show that rols, the TANC2 homolog in flies, is required for synapse growth and function.

Duplications of gene segments can allow novel physiological adaptations to evolve. A detailed analysis of the TCAF gene family in primates and archaic humans suggest rapid duplication and diversification in this gene family is associated with cold or dietary adaptations.

Taphonomic and stable isotopic analysis of fish bone assemblages at the early Middle Pleistocene site of Gesher Benot Ya'aqov in Israel suggest that fish were cooked before consumption by hominins.

Drugs targeting dysregulated ERK1/2 signaling can cause severe cardiac side effects, precluding their wide therapeutic application. Here, a new and cardio-safe targeting strategy is presented that interferes with ERK dimerization to prevent pathological ERK1/2 signaling in the heart and cancer.

High-grade meningiomas have a poor prognosis with virtually no effective systemic therapies. Here, the authors report results of a phase 2 clinical trial demonstrating safety and activity of pembrolizumab, a PD-1 inhibitor, in patients with recurrent and residual high-grade meningiomas.

Segmental Duplication Assembler (SDA) uses long sequence reads to resolve segmental duplications that are collapsed in current genome assemblies. These assemblies correspond in total to the length of an average human chromosome.

High contiguity human genomes can be assembled de novo in 6 h using nanopore long-read sequences and the Shasta toolkit.

In a surface code consisting of four data and three ancilla qubits, repeated error detection is demonstrated. The lifetime and coherence time of the logical qubit are enhanced over those of any of the constituent qubits when no errors are detected.

Short-read sequencing has inherent limitations in the characterisation of long repeat elements. Shi and Guo et al.combine single-molecule real-time sequencing and IrysChip to construct a Chinese reference genome that fills many gaps in the reference genome, and identify novel spliced genes.

Autism spectrum disorder (ASD) is a common disorder with a strong and complex genetic component. Here, the authors resequence 64 candidate neurodevelopmental disorder risk genes in almost 6,000 samples and identify novel genes associated with ASD.

An analysis of human chromosome 15 — which is altered in Prader-Willi and Angelman syndromes — reveals that it resembles a hall of mirrors, as it contains a number of sequence duplications throughout its length. The evolutionary events that may have led to the high number of duplications was also reconstructed.

Analysis of whole-genome sequence data from 3,474 families finds an excess of private, likely gene-disrupting variants in individuals with autism. These variants are under purifying selection and suggest candidate genes not previously associated with autism.

Autism spectrum disorders (ASD) are characterized by social impairments, communication deficits and repetitive stereotyped behaviours. Here, the authors show that de novo missense mutations, but not inherited missense mutations, in TBR1disrupt the protein function and contribute to ASD aetiology.

Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca²⁺ transport and AMPAR currents.”

Common polygenic variation at chromosome 16p and rare recurrent deletions of 16p11.2 influencing autism risk are associated with reduced expression of genes throughout the 16p region, suggesting functional convergence of rare and common variant effects.

We use connectomics to compare the wiring logic of premotor circuits controlling the Drosophila leg and wing, finding that both premotor networks cluster into modules that link motor neurons innervating muscles with related functions.

A programmable neutral-atom quantum computer based on a two-dimensional array of qubits led to the creation of 2–6-qubit Greenberger–Horne–Zeilinger states and showed the ability to execute quantum phase estimation and optimization algorithms.

Two indistinguishable single photons that simultaneously enter a beam splitter will always leave together, and this Hong–Ou–Mandel effect is now observed with microwave photons for the first time. Coherence between the beam-splitter output arms is demonstrated, enabling two-mode entanglement, which is useful for quantum communication processing at microwave frequencies.

Thomas Sander and colleagues identify 15q13.3 microdeletions in 1% of individuals with idiopathic generalized epilepsy (IGE). The majority of these individuals do not show intellectual disability, schizophrenia or other neuropsychiatric phenotypes, thus extending the phenotypic spectrum associated with 15q13.3 microdeletions.

Careful, low-noise measurement techniques allow record quality factors to be determined in ultraclean, suspended carbon nanotube resonators, which are comparable to those of much larger resonators.

Energy decay measurements in nanomechanical graphene resonators reveal that the flow of energy takes different paths during the decay.