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Using data from a single time point, passenger-approximated clonal expansion rate (PACER) estimates the fitness of common driver mutations that lead to clonal haematopoiesis and identifies TCL1A activation as a mediator of clonal expansion.

MultiSTAAR provides a general and flexible statistical framework for functionally informed multi-trait rare variant analysis of biobank-scale sequencing studies by jointly analyzing multiple traits and incorporating annotation information.

A turnkey regime for soliton microcombs is demonstrated, in which solitons are generated by switching on a co-integrated pump laser, eliminating the need for photonic and electronic control circuitry.

Analyses of genome and exome sequencing data identify rare coding and structural variants associated with atrial fibrillation and highlight genetic links between atrial fibrillation and cardiomyopathies.

A multi-ancestry genome-wide gene–smoking interaction study identifies 13 new loci associated with serum lipids.

A trans-ancestry meta-analysis of GWAS of glycemic traits in up to 281,416 individuals identifies 99 novel loci, of which one quarter was found due to the multi-ancestry approach, which also improves fine-mapping of credible variant sets.

STAARpipeline is a comprehensive framework for flexible and scalable rare-variant association analysis using whole-genome sequencing data and annotation information.

On-Chip integration of laser systems led to impressive development in many field of application like LIDAR or AR/VR to cite a few. Here the authors harness Pockels effect in an integrated semiconductor platform achieving fast on-chip configurability of a narrow linewidth laser.

Non-Abelian lattice gauge fields in photonic synthetic frequency dimensions can be used to study lattice physics in a scalable and programmable way.

Using CMOS-ready ultra-high-Q microresonators, a highly coherent electrically pumped integrated laser with frequency noise of 0.2 Hz² Hz⁻¹, corresponding to a short-term linewidth of 1.2 Hz, is demonstrated. The device configuration is also found to relieve the dispersion requirements for microcomb generation that have limited certain nonlinear platforms.

STAAR is a powerful rare variant association test that incorporates variant functional categories and complementary functional annotations using a dynamic weighting scheme based on annotation principal components. STAAR accounts for population structure and relatedness and is scalable for analyzing large whole-genome sequencing studies.

Analysis of 97,691 high-coverage human blood DNA-derived whole-genome sequences enabled simultaneous identification of germline and somatic mutations that predispose individuals to clonal expansion of haematopoietic stem cells, indicating that both inherited and acquired mutations are linked to age-related cancers and coronary heart disease.

The goals, resources and design of the NHLBI Trans-Omics for Precision Medicine (TOPMed) programme are described, and analyses of rare variants detected in the first 53,831 samples provide insights into mutational processes and recent human evolutionary history.

Although the common genetic variants contributing to blood lipid levels have been studied, the contribution of rare variants is less understood. Here, the authors perform a rare coding and noncoding variant association study of blood lipid levels using whole genome sequencing data.

Analysis of whole-genome sequences of 25,465 individuals of European ancestry shows that rare variants contribute substantially to the heritability of height and body mass index.

GWAS have identified more than 500 genetic loci associated with blood lipid levels. Here, the authors report a genome-wide analysis of interactions between genetic markers and physical activity, and find that physical activity modifies the effects of four genetic loci on HDL or LDL cholesterol.

A study shows that clonal haematopoiesis of indeterminate potential is associated with an increased risk of chronic liver disease specifically through the promotion of liver inflammation and injury.

Lin et al. show that small extracellular vesicles derived from SIRT2-deficient hepatocytes inhibit osteoclast differentiation from mouse and human bone-marrow-derived monocytes and alleviate bone loss in mouse models of osteoporosis.

Authors report quantum decoherence of dissipative Kerr solitons in normal-dispersion microresonators, also known as dark pulses. They show the quantum decoherence of dark pulses and their potential advantages over bright solitons in an AlGaAs-on-insulator system.

Heart failure is a complex syndrome that is associated with many different underlying risk factors. Here, to increase power, the authors jointly analyse cases of heart failure of different aetiologies in a genome-wide association study and identify 11 loci of which ten had not been previously reported.

Achieving high output power and low noise integrated lasers is a major challenge. Here the authors experimentally demonstrate integrated lasers from a Si/SiN heterogeneous platform that shows Hertz-level linewidth, paving the way toward fully integrating low-noise silicon nitride photonics in volume using real devices for lasing.

Most studies of the genetics of the metabolome have been done in individuals of European descent. Here, the authors integrate genomics and metabolomics in Black individuals, highlighting the value of whole genome sequencing in diverse populations and linking circulating metabolites to human disease.

 Fully integrated photonics at submicrometre wavelengths is realized by a heterogeneous integration technology.

Detailed quantification of nanoparticle distribution in tumor tissues can provide the prediction of drug delivery efficacy and therapeutic outcome. Here the authors develop a pH/light dual responsive monochromatic ratiometric-imaging nanoparticle which can quantify extracellular and intracellular nanoparticle distribution in several tumor models.

Platelet aggregation is associated with myocardial infarction and stroke. Here, the authors have conducted a whole genome sequencing association study on platelet aggregation, discovering a locus in RGS18, where enhancer assays suggest an effect on activity of haematopoeitic lineage transcription factors.

Pooling participant-level genetic data into a single analysis can result in variance stratification, reducing statistical performance. Here, the authors develop variant-specific inflation factors to assess variance stratification and apply this to pooled individual-level data from whole genome sequencing.

The neural circuits through which the substantia nigra pars reticulata (SNr) exerts its role in epilepsy control are not known. Here the authors reveal that a long-range SNr-parafascicular nucleus disinhibitory circuit participates in regulating seizures in temporal lobe epilepsy and inhibition of this circuit can alleviate severity of epileptic seizures.

The influence of X chromosome genetic variation on blood lipids and coronary heart disease (CHD) is not well understood. Here, the authors analyse X chromosome sequencing data across 65,322 multi-ancestry individuals, identifying associations of the Xq23 locus with lipid changes and reduced risk of CHD and diabetes mellitus.

Optical absorption and nonlinear index are important performance drivers in devices like microcombs. Here the authors use resonance-enhanced nonlinear spectroscopy to characterize absorption limits and nonlinear index for some integrated photonic materials.

Chip-based architectures for mid-infrared gas sensing could enable many applications. In this direction, the authors demonstrate a microcomb-based dual-comb spectroscopy sensor with GHz resolution in the mid-IR band, with stability completely determined by a single high-Q microresonator.

MetaSTAAR enables functionally informed rare variant association analysis in biobank-scale cohorts using an efficient, sparse matrix approach for summary statistic storage.

The genetic basis of daytime napping and the directional effect of daytime napping on cardiometabolic health are unknown. Here, the authors perform a genome-wide association study on self-reported daytime napping in the UK Biobank and Mendelian randomization to explore causal associations.

A high-resolution reference panel based on whole-genome sequencing data enables accurate imputation of HLA alleles across diverse populations and fine-mapping of HLA association signals for HIV-1 host response.

This study of 23,000 non-diabetic individuals highlights loci associated with fasting glucose and fasting insulin in diverse cohorts with whole genome sequence data.