Discover, rate, and discuss biology preprints.

This paper validates DNA methylation signatures for FSHD detection using D4Z4caster software and compares Sanger and NGS methods for improved diagnostic accuracy and accessibility.

The paper develops a CRISPR/Cas9 method for editing Zymoseptoria tritici and shows that Mycgr3107904 contributes to disease progression.

The paper identifies regulatory variants associated with aortic valve disease and shows their impact on gene expression and disease mechanisms.

The paper introduces TransCisPredict to predict protein expression using cis- and trans-variants, improving proteome-wide association study power for type 2 diabetes.

The paper examines the heritability of reinforcement learning parameters related to anxiety, finding extinction learning rates correlate with anxiety severity but show no heritability, while safety learning rates have modest heritability but no genetic overlap with anxiety.

This study identifies rare genetic variants in the IIS/mTOR pathway in long-lived humans and shows they have shared functional effects on lifespan-related traits in mice.

The paper shows that chromatin architecture limits replication origin licensing capacity in budding yeast by restricting helicase loading through Isw2-dependent nucleosome repositioning.

The paper analyzes the relationship between spatiotemporal cultural variation and genomic data to determine how cultural affiliation influences burial practices.

This paper presents a high-quality de novo genome assembly of Diadema antillarum using multiple sequencing platforms and assembly strategies.

The paper identifies genomic regions with increased reciprocal recombination in autism spectrum disorder families, suggesting these regions may contribute to disease through unfavourable haplotypes.

The paper shows that pharmacological stress reveals hidden allelic background effects in genetic interaction screens, using fission yeast and Torin1 to demonstrate divergent fitness profiles.

The paper validates a genetic literacy measure (EAGL) using factor analysis and finds education and autism connection impact knowledge comprehension.

This study investigates the role of phosphatase PP4 in the Neurospora circadian clock, showing it regulates period length and compensation mechanisms.

This study demonstrates that allele-specific antisense oligonucleotides can rescue ATAD3A-associated developmental defects in zebrafish by reducing mutant transcripts.

The paper shows that Hog1 in wild S. cerevisiae strains has a broader stress response than in lab strains, with distinct non-osmotic stress gene regulation.

This study uses single-cell multi-omics to analyze immune reconstitution failure in HIV patients, identifying genetic and epigenetic factors and developing a predictive model.

This study investigates the role of eL22 in yeast ribosome assembly, showing it is required for 60S subunit production, especially at low temperatures, and is involved in pre-rRNA processing and nuclear export.

This study uses single-cell RNA sequencing to analyze the embryonic C. elegans intestine, identifying 13 cell clusters and their developmental and spatial characteristics.

The paper develops and validates a multilocus sequence typing scheme for Fasciola hepatica using next-generation sequencing to study population genetic structure across UK cattle and sheep populations.

The paper identifies protein phosphatases involved in circadian period, temperature compensation, and output in Neurospora by analyzing 39 non-essential phosphatases.