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"Познание начинается с удивления" (Аристотель)
Новое в науке на 2024-03-29

Protein-altering variants at copy number-variable regions influence diverse human phenotypes

Incorporating protein-altering copy number variants ascertained from UK Biobank whole-exome sequencing data into analyses of rare predicted loss-of-function variants identifies complex trait associations not detectable using standard analysis methods.

2024-03-28

Cell-type-specific and disease-associated expression quantitative trait loci in the human lung

Single-cell transcriptomics and expression quantitative trait locus mapping in 114 lung tissue samples, including 66 with interstitial lung disease, highlight the cell-type-specific functions of risk variants contributing to disease pathobiology.

2024-03-28

A single-cell atlas enables mapping of homeostatic cellular shifts in the adult human breast

Single-cell RNA sequencing analysis of over 800,000 human adult breast cells from 55 female donors identifies 41 cell subtypes and highlights age- and parity-dependent effects. Samples from healthy women with germline mutations in BRCA1 or BRCA2 showed signs of T cell exhaustion.

2024-03-28

Genetic Variations in THC Metabolism: Implications for Cannabis Use Disorder Risk

In a recent study published in Addictive Behaviors, a team led by Rachel Tomko, Ph.D., from the Medical University of South Carolina, alongside...

2024-03-28

Novel Combination Therapy for Colorectal Cancer Explores Viral Mimicry Mechanism

In a significant stride toward improving colorectal cancer treatment, scientists at the Van Andel Institute in Grand Rapids, Michigan, have...

2024-03-28

Slideflow: deep learning for digital histopathology with real-time whole-slide visualization

Deep learning methods have emerged as powerful tools for analyzing histopathological images, but current methods are often specialized for specific domains and software environments, and few open-source...

2024-03-27

SurvConvMixer: robust and interpretable cancer survival prediction based on ConvMixer using pathway-level gene expression images

Cancer is one of the leading causes of deaths worldwide. Survival analysis and prediction of cancer patients is of great significance for their precision medicine. The robustness and interpretability of the...

2024-03-27

Classifying breast cancer subtypes on multi-omics data via sparse canonical correlation analysis and deep learning

Classifying breast cancer subtypes is crucial for clinical diagnosis and treatment. However, the early symptoms of breast cancer may not be apparent. Rapid advances in high-throughput sequencing technology...

2024-03-27

Utilizing genomic signatures to gain insights into the dynamics of SARS-CoV-2 through Machine and Deep Learning techniques

The global spread of the SARS-CoV-2 pandemic, originating in Wuhan, China, has had profound consequences on both health and the economy. Traditional alignment-based phylogenetic tree methods for tracking...

2024-03-27

HIPPO: HIstogram-based Pseudo-POtential for scoring protein-ssRNA fragment-based docking poses

The RNA-Recognition motif (RRM) is a protein domain that binds single-stranded RNA (ssRNA) and is present in as much as 2% of the human genome. Despite this important role in biology, RRM-ssRNA interactions...

2024-03-26

Structural basis of the histone ubiquitination read–write mechanism of RYBP–PRC1

Cryo-EM studies reveal that RYBP–PRC1 uses two distinct interfaces for binding unmodified and H2Aub1-modified nucleosomes. These binding modes enable the complex to generate H2Aub1 chromatin domains by a read–write mechanism.

2024-03-25

Engineering Enhanced mRNA Structures for Next-Generation Therapeutics

Messenger RNA (mRNA) technology, previously spotlighted for its pivotal role in COVID-19 vaccine development, is now spreading into other therapeutic...

2024-03-22

Single-cell multi-ome regression models identify functional and disease-associated enhancers and enable chromatin potential analysis

Single-cell ATAC + RNA linking (SCARlink) predicts gene expression by jointly modeling local tiled chromatin accessibility using regularized Poisson regression on multi-ome data. SCARlink predictions can be used to identify cell-type-specific enhancers and perform chromatin potential analysis.

2024-03-21

Rethinking Aging: Length of Genes as a Key Factor

In a recent opinion piece published in the journal Trends in Genetics, researchers propose a novel perspective on aging, suggesting that the process...

2024-03-21

Decoding the Genomes of the Largest and Smallest Mammals

In a recent collaborative effort led by the Morgridge Institute for Research, scientists have successfully assembled the reference genomes for two...

2024-03-19