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SARDINE unlocks EWAS summary statistics for large-scale epigenetic biomarker analysis

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

Genomic and Epigenomic Relationships Capture Different Patterns of Genotype-by-Environment Interaction in Grapevine Clones

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.

Tools for genetic mapping and gene identification in Caenorhabditis briggsae

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

Deep transcriptomic analysis of molecular mediators of complex traits in heterogeneous stock (HS) rats

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.

Analysis of reproductive traits associated with lipoprotein(a) deficiency in participants from the Pakistan Genome Resource

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

Short-read whole-genome sequencing identifies the Tg(Tal1-cre/ERT)42-056Jrg transgene insertion site on mouse chromosome 4

Transportability of mouse gene knockout models to human complex phenotypes

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.

SeverYX: An ensemble framework for robust variant severity classification

SeverYX is an ensemble framework that classifies genetic variants into severity tiers, achieving high concordance with ClinVar and improving predictive accuracy through threshold optimization and additional predictors.

A DNM1L GTPase Effector Domain Deletion Causes Intermediate Defects in Peroxisomal and Mitochondrial Dynamics and Reveals a Targetable Metabolic Vulnerability

This study investigates the functional impact of a DNM1L GED deletion variant, showing intermediate effects on peroxisomal and mitochondrial dynamics and a targetable metabolic vulnerability.

The role of the fruitless P3 transcript in development in Drosophila melanogaster

This study investigates the role of the fruitless P3 transcript in Drosophila development, finding it essential for pupal development and metamorphosis, with distinct effects compared to complete fruitless loss.

Linking dynamic photosynthetic traits to biomass: a functional data framework that pinpoints when photosynthesis limits growth

The paper models genotype-specific photosynthetic trait trajectories using functional data analysis to predict biomass, finding that early growth period traits most strongly influence final dry weight.

LRCQ: phenome-wide heritability enrichment of genomic loci from GWAS summary statistics

LRCQ estimates phenome-wide heritability enrichment of genomic loci using GWAS summary statistics, identifying enriched regions and their functional annotations.

Perturbation-induced gene programs map the hidden regulatory architecture of complex diseases

This paper introduces Perturbscape, a framework that uses perturbation-induced gene programs to identify disease-relevant genes and pathways, showing higher heritability informativeness than steady-state approaches.

Deep Recovery of Effective Migration Surfaces

This paper introduces dreems, a graph neural network that efficiently estimates effective migration surfaces from genetic data, achieving lower error and faster computation than existing methods.

LRCP: identifying functionally related SNPs and genes from phenome-wide genetic-effect correlations using GWAS summary statistics

LRCP identifies functionally related SNPs and genes by estimating phenome-wide genetic-effect correlations from GWAS summary statistics, improving accuracy over naive methods.

Novel Regulators of Sugar-dependent Food Consumption in Drosophila melanogaster

This study identifies genetic regulators of sugar-dependent food consumption in Drosophila using GWAS and RNAi knockdown.

Removal of maternal compensation reveals retinal-specific roles for Pomgnt1 in zebrafish

This study shows that removing maternal compensation in zebrafish reveals retinal-specific roles for Pomgnt1, with retinal abnormalities appearing early and behavioral changes observed.

Making sense of chaos: replication and segregation defects in the yeast mcm4Chaos3 mutant

The paper investigates the mcm4Chaos3 mutation in yeast, showing it causes genome instability by impairing specific centromere-proximal origins.

Marked Mutants Allow for Rapid Non-Invasive Genotyping of Zebrafish by Visual Inspection Alone

This paper introduces a method to rapidly genotype zebrafish mutants using visual inspection by inserting fluorescent markers into target genes, enabling non-invasive identification of genotypes.

Sedimentary ancient DNA analysis from the Iron Age courtyard and cooking pit site of Rodskjaer in Troms, Northern Norway

This study uses sedimentary ancient DNA metabarcoding to analyze Iron Age courtyard and cooking pit sites, identifying plant and animal taxa and highlighting challenges from bioturbation and root penetration.