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This study uses long-read whole genome sequencing and pangenomes to identify novel variants and pathogenic findings in neurodevelopmental disorder cases from underrepresented populations.

This study identifies male-specific genome sequences for non-invasive sex identification in Nishikigoi, develops PCR markers, and establishes a field-applicable diagnostic platform.

The paper identifies host genes in C. elegans required for bacterial adherence to the gut epithelium using a genetic screen.

The paper integrates exome and transcriptome data from a schizophrenia case with low polygenic risk to identify potential variants and transcriptomic abnormalities, revealing biological alterations linked to cerebrovascular disease.

This study identifies specific mutational sequences in congenital neutropenia patients that predict leukemic transformation.

This study maps quantitative trait loci modifying glycemia in MafAS64F-driven dysglycemia using genetically diverse mice.

This study analyzes genomic changes in a 50-year dairy cattle selection experiment, finding increased inbreeding and localized genetic differentiation in the selected line.

This study identifies host factors and cellular contexts governing anellovirus persistence through genomic, transcriptomic, and functional analyses.

This study shows that Saccharomyces cerevisiae persistence in mice is polygenic with strong additive effects and minimal host-genotype interactions.

This study identifies eIF4H1 as a conserved gene regulating sociality and neuronal development in Drosophila, supporting a genetic toolkit for social traits across species.

This study identifies five novel ocular enhancers in zebrafish that regulate rax expression during eye development and shows their robustness to perturbations.

SARDINE uses EWAS summary statistics to estimate epigenetic clock-phenotype associations without individual-level data, revealing heterogeneity in biomarker associations with aging and diseases.

This study compares how genomic and epigenomic relationships contribute to genotype-by-environment interaction in grapevine clones, finding that epigenomic factors capture more GEI variance than genomic factors.

The paper updates a toolkit for genetic studies in C. briggsae by identifying indel variants and mapping mutations to genes using high-throughput sequencing.

This paper expands the RatGTEx resource with transcriptome-wide associations across 3,160 RNA-seq samples, identifying 7,473 gene-trait links and 144,876 QTLs for 22,599 genes.

The paper analyzes reproductive outcomes in individuals with LPA loss-of-function variants to assess the safety of Lp(a) lowering therapies.

The paper assesses the transportability of mouse gene knockout models to human complex phenotypes using GPAT framework, finding evidence for 12 phenotypes but limited for others.