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The ingestible device shoots out tiny jets of drugs to deliver them to the GI tract of pigs and dogs — plus how light-powered catalysts could help break down ‘forever chemicals’.

The influence of pregnancy on Long COVID is not well understood. Here, the authors use electronic health record data from the United States to compare the incidence of Long COVID in females after infection in pregnancy with matched non-pregnant females of reproductive age.

The team select some of their favourite stories from the past 12 months.

The extent to which COVID-19 vaccination protects against long COVID is not well understood. Here, the authors use electronic health record data from the United States and find that, for people who received their vaccination prior to infection, vaccination was associated with lower incidence of long COVID.

Tryptophan metabolism through the kynurenine pathway changes with age and represents a potential intervention target for age associated disease. Here, the authors show that elevating physiological levels of the kynurenine pathway metabolite 3- hydroxyanthranilic acid can promote healthy aging.

Transancestral GWAS meta-analysis in 160,420 individuals identifies 139 loci associated with refractive error, including myopia. Newly identified genes implicate pathways involved in eye growth and light signaling cascades.

CRISPR/Cas9 technology has revolutionised the ability of scientists to make genetically modified cells and animal models. Here, the authors make a Tet-On genetically modified mouse using the Streptococcus pyogenes Cas9 and demonstrate that it can be used for generation of mice with lung cancer.

In this Roadmap arising from an NHLBI workshop, Chew and colleagues explore the use of retinal imaging biomarkers for the prediction, diagnosis and monitoring of systemic cardiovascular diseases. The authors identify knowledge gaps and research opportunities to translate retinal imaging biomarkers into clinical practice.

Here, the authors perform genome-wide mapping of DNA methylation and expression quantitative trait loci, revealing associations among genotype, epigenome and transcriptome, uncovering genes and gene-environment interactions contributing to age-related macular degeneration (AMD).

Multi-ancestry genome-wide analyses identify new risk loci for age-related macular degeneration. Ancestry-specific analyses identify distinct effects at major risk loci, including smaller effect sizes for CFH risk alleles in haplotypes of African ancestry.

Analyses of in vivo models, cell lines and patient-derived samples show that apolipoprotein B mRNA-editing catalytic subunit 3B (APOBEC3B) not only restrains lung tumor initiation but also that its upregulation is associated with resistance to targeted therapies. This study highlights the complex and context-dependent role of APOBEC3B in lung cancer.

Iris Heid, Gonçalo Abecasis, Sudha Iyengar and colleagues report the results of a large genome-wide association meta-analysis of macular degeneration based on over 43,000 subjects. They identify 16 new risk loci, including some very rare coding variants.

Li et al. use standard clinical imaging of living human eyes and apply artificial intelligence (AI) to obtain cellular information. The improvements in resolution possible with indocyanine green images obtained using adaptive optics can also be achieved using AI, with a 220-fold improvement in throughput.

Age-related macular degeneration is a serious eye disease which should be detected as early as possible. Using both fundus images and genetic information, a deep neural network is able to detect the severity of the disease and predict its progression seven years into the future.

Routine eye clinic imaging could help screen patients with cardiovascular risk as studies indicate strong associations between biomarkers in the retina and the heart. This potential is supported by a multimodal study, employing a deep learning model, that can infer cardiac functional indices based on retinal images and demographic data.

Here, the authors perform transcriptional profiling on tracheal aspirates of adults requiring mechanical ventilation for SARS-CoV2-induced acute respiratory distress syndrome (ARDS) and identify a dysregulated host response predicted to predicted to be potentially modulated by dexamethasone.

Hadley et al. characterize COVID-19 re-infections utilizing electronic health record study cohort data of over 3 million patients. They find severe initial COVID-19 infection linked to severe reinfections and less frequent long COVID diagnosis after reinfection.

Age-related cataracts are characterized by clouding of the eye’s lens and cause vision impairment or loss. Here the authors develop a retinal photograph-based deep-leaning method to detect visually significant cataracts and report that it detects cataracts with similar accuracy to ophthalmologists.

This report by the Consortium for Refractive Error and Myopia uses gene-environment-wide interaction study (GEWIS) to identify genetic loci that affect environmental influence in myopia development, and identifies ethnic specific genetic loci that attribute to eye refractive errors.

Caroline Klaver and colleagues report a meta-analysis for refractive error and myopia, including 37,382 individuals from 27 European studies and 8,376 individuals from 5 Asian studies, as part of the Consortium for Refractive Error and Myopia (CREAM).

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.

The authors transcriptionally profiled postmortem retinas from 453 age-related macular degeneration (AMD) cases and controls. Integration of AMD GWAS with eQTL analysis and TWAS identified several AMD-associated genes.

Goncalo Abecasis and colleagues report identification of a rare coding variant in the complement 3 gene that is associated with age-related macular degeneration.

Christian Fuchsberger, Gonçalo Abecasis and colleagues describe a new web-based imputation service that enables rapid imputation of large numbers of samples and allows convenient access to large reference panels of sequenced individuals. Their state space reduction provides a computationally efficient solution for genotype imputation with no loss in imputation accuracy.

Gonçalo Abecasis, Chaolong Wang and colleagues report a new statistical method, implemented in a publicly available software program LASER, to estimate an individual's genetic ancestry directly from off-target sequence reads from targeted sequencing experiments, making use of a reference panel. Their simulations and testing on real data sets show accurate inference of worldwide continental ancestry with whole-genome shotgun coverage as low as 0.001× and of fine-scale ancestry within Europe with coverage as low as 0.1×.

Age-related macular degeneration (AMD) is the leading cause of severe vision loss in the developed world. This Primer describes the different stages of AMD, its epidemiology, the current understanding of its pathophysiology and diagnostic modalities. Additionally, it outlines existing treatment options and highlights the outstanding issues, suggesting future research avenues.

Elsawy, Keenan, Chen et al. detect cataracts from color fundus photography using an explainable deep learning network called DeepOpacityNet. DeepOpacityNet detects cataracts more accurately than ophthalmologists and demonstrates that the absence of blood vessels is an indicator that cataracts are present.

Gonçalo Abecasis and colleagues report a large-scale meta-analysis of genome-wide association studies for age-related macular degeneration (AMD), including over 17,100 advanced cases and 60,000 controls. They identify seven loci newly associated with AMD and report pathway analysis that shows enrichment in the complement system and atherosclerosis signaling.

Jonathan Marchini, Gonçalo Abecasis, Richard Durbin and colleagues describe the construction of a reference panel of human haplotypes from whole-genome sequencing data. They are able to use this to accurately impute genotypes at low minor allele frequency and present remote server resources for use by the community.

Here, the authors report a multi-ethnic genome wide association meta-analysis of 12 studies from the International Cataract Genetics Consortium. They find six new loci associated with age-related nuclear cataract, in addition to replicating the association at CRYAA, and suggest a strong genetic link between age-related nuclear and congenital cataracts.

A multi-ethnic meta-analysis of exome array data from over 27,000 participants identifies several rare variants that could contribute to risk of ocular refractive error.