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Ultra-Fast Implementation of Multivariate GWAS in Genomic SEM Using Flexible Analytic Estimation

The paper introduces an ultra-fast analytic solution for multivariate GWAS in Genomic SEM, reducing computation time by over 800 times and enabling efficient analysis on standard hardware.

Fluorescently-labeled split-QF hemidrivers: simplifying and enhancing methods enabling intersectional targeting of discrete cell types

The paper develops fluorescently labeled split-QF and QF2 hemidrivers in zebrafish to simplify intersectional targeting and enable quality control of split-driver function.

Inoculation of Malus baccata 'Jackii'-derived offspring and QTL analysis reveal a polygenic inheritance pattern of apple blotch resistance

This study inoculates Malus baccata 'Jackii'-derived offspring and performs QTL analysis to show apple blotch resistance is polygenic with four key QTLs identified.

Polynucleotide Phosphorylase Stops Replication Restart by Degrading the RNA within R-loops during Replication-Transcription Conflicts

The paper shows that PNPase degrades RNA in R-loops to prevent replication restart and reduce mutations during replication-transcription conflicts.

Sex differences in transcription-associated mutagenesis in the human germline

The paper investigates sex differences in germline mutation rates linked to transcription, finding distinct associations in males and females across different germline stages.

Achiasmatic meiosis underlies propagation of clonal genome and B chromosomes in hexaploid Carassius gibelio females but not males

The paper shows that hexaploid Carassius gibelio females use achiasmatic meiosis to produce clonal eggs, while males have reduced fertility due to meiotic issues, and B chromosomes are stably inherited as univalents.

MAGI: Mechanistic Consequences of Genetic Variants via Genomic Foundation Models

MAGI provides mechanistic insights into genetic variants by integrating genomic data and clinical annotations to improve variant interpretation and generate testable hypotheses.

HLA alleles and haplotype distribution across Russian population groups

This study reports HLA allele and haplotype frequencies across 14 Russian ethnic groups using whole genome sequencing data, highlighting differences in risk alleles for type 1 diabetes and improving HLA frequency coverage in eastern Europe and northern Asia.

An extension of the Cx(Co)m model of crossover patterning to account for experimental mortality in Drosophila melanogaster

The paper extends a crossover model to account for experimental mortality in Drosophila melanogaster by incorporating binomial survival rates and marker-associated viability defects.

Liver-directed AAV gene therapy metabolically corrects AKU in Hgd deficient mice

This study demonstrates that liver-directed AAV gene therapy corrects metabolic defects in Hgd-deficient mice by restoring HGD expression and reducing HGA levels without hypertyrosinemia.

Genomic Informational Field Theory (GIFT) to identify genetic associations of a complex trait using a small sample size

This paper introduces GIFT, a method that enables accurate genetic association analysis in small datasets, identifying loci linked to height at withers in ponies and validating a hypothesis about insulin physiology.

A Slc5a6 Deficient Mouse Model Reveals a Metabolically Driven Dilated Cardiomyopathy with Therapeutic Potential for Vitamin-Based Intervention

This study shows that SLC5A6 deficiency causes dilated cardiomyopathy in mice, which can be prevented by vitamin supplementation, mirroring clinical outcomes in patients.

Molecular characterization of spiny lobsters from the Saint Martins Island, Bangladesh: a new record of Panulirus longipes (A. Milne-Edwards, 1868)

The paper identifies a new spiny lobster species, Panulirus longipes, in Bangladesh using morphological and mitochondrial DNA analysis.

Circular RNA-associated QTLs show stronger association with splicing-QTLs than with expression-QTLs

The paper compares circQTLs with splicing and expression QTLs, finding stronger genomic overlap with splicing-QTLs and distinct genomic distribution patterns.

Differential contribution of elastin and fibrillin-1 to the cardiovascular phenotype of a double heterozygous Marfan and Williams-Beuren syndrome mouse model

This study examines a double heterozygous mouse model of Marfan and Williams-Beuren syndromes, showing combined vascular and cardiac phenotypes related to elastin and fibrillin-1.

Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for amyotrophic lateral sclerosis diagnosis and progression

This study identifies epigenetic biomarkers in cell-free DNA for ALS diagnosis and progression prediction using methylation analysis.

The Paraphyletic Origins of Genetic Resistance to Cabbage Stem Flea Beetle in Brassica oleracea

This study identifies a major QTL for resistance to cabbage stem flea beetle in Brassica oleracea using GWAS, showing resistance evolved after domestication and feralization, not from var. botrytis.

Sequence context and methylation interact to shape germline mutation rate variation at CpG sites

The paper quantifies CpG mutation rates and methylation effects across sequence contexts using human polymorphisms, finding that methylation and flanking sequences interact to shape mutation rates.

Efficient base editing and development in human embryos without chromosomal alterations

This study shows that base editing in human embryos produces efficient on-target changes without chromosomal abnormalities or large deletions, unlike CRISPR/Cas9-induced DSBs.

Reproducibility of the evaluation of genetic variant pathogenicity based on the animal variant classification guidelines

This study assesses the reproducibility of pathogenicity classification using the animal variant classification guidelines across three species, finding 65% reproducibility for pathogenicity and 83% clinically relevant agreement.