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Allelic variation at tRNA genes in three nematode species indicates mutation load despite strong purifying selection

The paper examines allelic variation in tRNA genes across three nematode species, finding high mutation rates and purifying selection, with functional mismatches between tRNA anticodons and amino acids.

Distinct mutational landscapes when comparing germline and somatic cancer variants in forty tumor suppressor genes.

The paper compares germline and somatic variants in 40 tumor suppressor genes, finding distinct mutational patterns and locations shaped by different selection pressures.

Bias in diversity estimators and neutrality tests induced by neutral polymorphic structural variants

The paper quantifies bias in genetic diversity and neutrality tests caused by neutral polymorphic structural variants and proposes corrected estimators.

Genetic correlation-guided mega-analysis of DO mice provides mechanistic insight and candidate genes for age-related pathologies

The paper uses genetic correlation analysis in DO mice to identify QTL and candidate genes linked to age-related pathologies.

Inferring genotype-phenotype maps using attention models

This paper applies attention-based models to predict phenotype from genotype, showing improved performance in epistatic regimes and enabling transfer learning across environments.

Aneuploidy alleviates the cell proliferation defect caused by mutations affecting origin licensing in Saccharomyces cerevisiae

The paper shows that aneuploidy in yeast can enhance cell proliferation by extending the G1 phase, compensating for defects in DNA replication licensing.

Malaria control and the unexpected spread of diagnostic-resistant Plasmodium falciparum in Peru

The paper analyzes the spread of Plasmodium falciparum with hrp2/3 deletions in Peru, finding that demographic changes from malaria control and potential selection pressures drove their fixation.

Mysm1 mutations in meander tail mice cause anterior-selective cerebellum malformation

This paper identifies Mysm1 mutations as the cause of meander tail mouse cerebellum malformation and links them to hematological and neurological defects.

Modeling patient variants of Cnot1 and Cdc42bpb results in distinct forms of congenital diaphragmatic hernia in mice

The paper validates two genes, Cnot1 and Cdc42bpb, as causes of congenital diaphragmatic hernia in mice using patient-specific variants and shows distinct hernia phenotypes.

Endometriosis lesions are oligoclonal structures derived from the normal endometrium

This study shows endometriosis lesions originate from the normal endometrium through clonal expansion, with distinct clones at different body sites.

Integrative k-mer and Transcriptomic Analysis Reveals Putative Sex-Determining Genes in Spinacia turkestanica

The paper identifies candidate sex-determining genes in Spinacia turkestanica using k-mer and transcriptomic analysis, revealing male-specific regions and validating three genes through qPCR.

Integrating Longitudinal Metabolite Profiles Improves Trait Prediction in Pigs in a Trait- and Timepoint-Dependent Manner

This study integrates longitudinal metabolite profiles into genomic prediction models for pig traits, showing improved prediction accuracy depending on the trait and timepoint of metabolite sampling.

Programmed meiotic errors facilitate dichotomous sperm production in the silkworm, Bombyx mori

This study identifies molecular differences in meiosis between eupyrene and apyrene sperm production in silkworms, showing that Sxl facilitates error-prone meiosis for apyrene sperm.

Transcriptomic analysis of cells following decreased mitochondrial DNA-copy number reveals compensatory mechanisms in mitochondrial DNA replication and cellular energetics

The paper investigates transcriptomic and methylomic changes in HEK 293T cells with reduced mtDNA copy number, revealing compensatory mechanisms in mitochondrial replication and metabolic pathways.

Multilocus microsatellite typing (MLMT) reveals high genetic diversity of Leishmania infantum strains causing tegumentary leishmaniasis in northern Italy

The paper uses MLMT to analyze genetic diversity of Leishmania infantum strains causing tegumentary leishmaniasis in northern Italy, revealing distinct genetic populations associated with different clinical forms.

ABCG transporter knockouts alter integument and eye pigmentation with gene-specific effects on viability in butterflies and moths

This study uses CRISPR-Cas9 to knockout ABCG transporter genes in lepidopteran species, revealing tissue-specific roles in pigmentation and viability.

Liver Disease Reveals KIF12 as a Critical Regulator of Mitochondria, Lysosome and Cilia Localization

This study identifies KIF12 as critical for organelle localization in cholangiocytes, showing its dysfunction leads to mitochondrial, lysosomal, and cilia mislocalization in liver disease.

Functional dissection of complex and molecular trait variants at single nucleotide resolution

This study functionally characterizes 221,412 trait-associated variants using MPRA in 5 cell types, identifying 12,025 regulatory variants and revealing widespread epistasis and non-TF mechanisms.

BayesR3AD: Joint analysis of additive and dominance in Bayesian mixture models

BayesR3AD extends Bayesian mixture models to jointly estimate additive and dominance genetic effects, improving prediction accuracy for fertility and longevity in Holstein cattle.

Kar4 acts as a Ste12 regulator in Saccharomyces cerevisiae, promoting Ste12 binding to a specific DNA motif genome-wide

The paper investigates Kar4's role in modulating Ste12 DNA binding and transcriptional activity in yeast, revealing its role in enhancing specificity for a specific DNA motif.