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This study examines how ancestry and environmental factors influence de novo mutation rates and spectra in a large whole-genome sequenced cohort, finding ancestry-related effects and a link between tobacco smoke exposure and increased mutation rates.

The paper shows that HTT CAG repeats expand in striatal neurons over time, leading to gene expression changes and neurodegeneration in Huntington disease.

The paper introduces lme4breeding, a fast linear mixed model for multi-trait/multi-environment experiments that handles complex covariance structures efficiently.

This paper optimizes the SAIGE algorithm using GPUs to accelerate GWAS on large datasets, achieving 20x speedup on the Million Veteran Program data.

The paper introduces multiAsCas12a, an engineered CRISPR-Cas12a variant enabling higher-order combinatorial chromatin perturbations, and demonstrates its use in discovering new enhancer elements and dissecting cis-regulatory element functions.

The paper identifies Indra as a negative regulator of rDNA copy number expansion in Drosophila by repressing RNA polymerase II-mediated rDNA transcription, which facilitates rDNA magnification through retrotransposon activity.

This study shows that Nab2 regulates alternative splicing and intron retention in Drosophila brain development, linking it to poly(A) tail length and gene expression changes.

The paper analyzes transcriptome data from human aneuploidies to show inverse or proportional trans-modulation of genes on unvaried chromosomes and compensation on varied chromosomes, with differences observed between autosomal and sex chromosome aneuploidies.

The paper identifies ARHGAP44 as a novel gene associated with longitudinal changes in HbA1c in non-diabetic individuals using linkage and sequence analysis from two studies.

The paper generates a high-quality genome assembly for the dyeing poison frog and shows transposable elements drive genome size evolution and complicate genotyping.

This study identifies genome-wide DNA methylation changes during human spermatogenesis and their disruption in disturbed spermatogenesis, highlighting hypomethylation at specific regions and transposable elements.

The paper identifies strain-specific alternative splicing differences in the Ninein gene between C57BL/6J and DBA/2J mice, linking these differences to ethanol anxiolytic effects.

This paper introduces GISMO and GISMO-mis metrics to quantify gene loss and missense variation across mammals, identifying essential genes and improving gene-disease associations.

The paper identifies distinct functional SNP classes associated with psychiatric disorders, behavioral traits, and neurological disorders, highlighting differences in genomic regions involved.

This study shows that germline manipulation in killifish leads to sex-specific effects on longevity and repair mechanisms.

The paper identifies a relationship between protein structure and glycan structure, introducing a glycoimpact matrix to predict glycosylation patterns and validate it through disease variants and engineered antibodies.

The paper investigates whether Ide copy number variants influence vascular phenotypes in mice and humans, finding no significant association.

This paper introduces scPRS, a deep learning model that deconvolves polygenic risk scores at the single-cell level to uncover cellular and molecular disease mechanisms in complex human diseases.

This study uses machine learning to predict yeast phenotypes from genotypes, finding gradient boosting machines perform best and accessory genome contributes significantly.

The paper identifies HIF-1 binding sites and hypoxia-responsive genes in C. elegans using gene expression and ChIP-seq analyses, revealing their roles in metabolism and stress response.