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The paper develops SVrefiner to refine structural variations, enhancing heritability estimates and risk prediction by integrating refined SVs with SNPs and other variants.

The paper shows neuronal small RNAs protect germline integrity and prevent heat-induced sterility in lab Caenorhabditis elegans by modulating thermotolerance and countering domestication effects.

This study shows that rRNA intermediates influence nucleolar structure in C. elegans by altering protein distribution and causing architectural changes.

This study shows that SRS2 in Arabidopsis has dual roles in meiotic recombination, both inhibiting and promoting crossover formation.

This study evaluates the effects of Allopurinol and Losartan on cardiovascular phenotypes in a mouse model of Williams-Beuren syndrome, finding that Allopurinol reduces blood pressure and improves cardiac pathology.

The paper uses targeted NGS to identify functional SNPs and pathways associated with IBD in GSDs, revealing genetic markers for treatment response.

This study shows that redox imbalance in Drosophila models of Gaucher and Parkinson's disease leads to renal dysfunction, which contributes to systemic decline and neurodegeneration.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

The paper shows that deleting Xist upstream sequences disrupts TAD organization, affects Xist expression, and leads to dysregulation of autosomal genes.

This study identifies Ctr9t, a testis-specific paralog of Paf1C subunit, as critical for male germline differentiation and sex chromosome gene regulation in Drosophila.

The paper uses patient-derived iPSC-CMs to show that polygenic scores influence cardiac electrophysiology and drug response in Long QT Syndrome.

This study identifies genetic loci for MetS-like traits in Drosophila and finds that main genetic effects are distinct from diet-dependent plastic loci.

The paper develops plasmids for CRISPR-Cas9 genome editing in yeast using retron-mediated amplification of repair templates, achieving high editing efficiencies.

The paper develops a self-sustained fungal bioluminescence system in animal models to monitor molecular events non-invasively.

This study examines how meiotic frequency and sexual strategies affect genetic diversity in facultatively sexual species like yeast, showing that low meiotic frequency can reduce genome-wide diversity during selective sweeps.

The paper introduces a method for systematically studying genetic interactions in human cells using CRISPR/Cas9 screens and demonstrates its effectiveness through 26 gene by genome-wide knockout screens.

The paper presents a pipeline for analyzing image-based complex traits using AI phenotyping, combined-GWAS, and federated learning, applied to human facial data to identify genetic loci associated with facial shape.

This paper presents a non-destructive DNA extraction method from DESS-preserved specimens and environmental samples for DNA barcoding, demonstrating its application on nematodes and other small organisms.

The paper investigates how pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics by altering protein structure and function.

The paper estimates rates of meiotic and mitotic errors in human embryos using simulation and approximate Bayesian computation, finding high levels of chromosomal mosaicism.