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The paper analyzes CYP2D6 variation in a multi-ethnic Asian cohort, identifying population-specific star alleles and actionable variants with implications for pharmacogenomics.

This paper presents a general model for analyzing two-locus assortative mating, providing closed-form expressions for linkage and identity disequilibrium in human populations.

The paper identifies gene expression changes and regulatory mechanisms underlying developmental divergence in the annelid Streblospio benedicti using RNAseq across ontogeny.

This study uses nanopore sequencing to resolve genotype-phenotype discrepancies in the Kidd blood group system by detecting structural variants and novel alleles.

The paper introduces causality-enriched epigenetic clocks, DamAge and AdaptAge, to track detrimental and adaptive methylation changes linked to aging, showing their association with adverse outcomes and beneficial adaptations.

This paper introduces a transformer-based model to predict cell type-specific DNA methylation regulatory variants and improves fine mapping for brain disorders.

This paper introduces PSMC+, an extension of the PSMC algorithm that accounts for background selection in demographic inference, improving accuracy in effective population size estimation.

The paper uses haplotype sharing trees and HAPTK to show that intermediate-length C9orf72 repeat alleles share haplotypes with the hexanucleotide repeat expansion, suggesting they are potential premutation alleles.

The paper integrates GWAS with scATAC-seq and scRNA-seq data to identify disease-critical fetal and adult brain cell types for multiple traits.

The paper compares epigenetic and genetic spatial structures in Mediterranean mountain plants, finding that narrow endemics show lower epigenetic differentiation than widespread congeners.

This study performs GWAS on macauba palms to identify candidate genes related to oil production traits using single-trait and multi-trait analyses.

The paper identifies a novel regulatory variant in the ABO gene's RUNX1 binding site associated with an A3 blood phenotype using long-read sequencing.

The paper identifies four kinases whose knockdown causes vulval defects in alg-1(0) C. elegans mutants after dauer, suggesting they regulate miRISC activity during post-dauer development.

The paper investigates a polymorphic regulatory region in the BDNF gene associated with obesity and anxiety in mice and humans, showing altered behavior and gene expression.

This study links single-cell transcriptomes to genotypes to assess the functional impact of single nucleotide variants, classifying missense variants into three categories.

This study investigates the function of a conserved genomic region linked to AIS by deleting it in mice, finding vertebral rotation and proprioceptive deficits similar to human AIS.

This study examines how genetic variation in ULK4 affects brain activation in the reward system during a conditioned reward task, finding increased activation in specific brain regions for a particular variant.

The paper introduces aFC-n, a method to improve eQTL effect size estimation and gene expression prediction, revealing significant residual allelic imbalance in many genes.

The paper identifies actin capping proteins as key modulators of therapeutic responses to radiation and immunotherapy through genome-scale CRISPR screens in melanoma cells.

The paper identifies Prdm9 alleles in wild mice that cause hybrid sterility when combined with specific alleles from other populations.