Latest AI and machine learning research in genetics for healthcare professionals.
BACKGROUND AND OBJECTIVE: Crohn's disease (CD) and colorectal cancer (CRC) share many clinical symptoms, making non-invasive differential diagnosis difficult. FIT-sDNA is sensitive for CRC screening in average-risk populations but often gives false positives in CD patients due to inflammation-induced mucosal turnover. This study aimed to develop and validate an algorithm-enhanced system (FIT-sDNA-...
PURPOSE: To propose a novel method that augments LLMs with evidence-based, variant-specific information to improve summarization accuracy and support clinical decision making. METHODS: We proposed Precision Grounding which uses a query tool that integrates domain expert-selected resources and allows users to query relevant factual information using identifiers in databases. In our case, which is g...
Predicting pathological complete response (pCR) to neoadjuvant therapy (NAT) in breast cancer remains challenging due to high tumor heterogeneity and ...
Circulating cell-free DNA (cfDNA) has emerged as a valuable non-invasive biomarker that provides unique insights into the spatial and temporal heterog...
Endocrine therapy remains one of the primary treatment modalities for estrogen receptor (ER) positive breast cancer, serving a pivotal role in improvi...
BACKGROUND: Predicting response to immune checkpoint inhibitor plus tyrosine kinase inhibitor (IO+TKI) therapy in metastatic renal cell carcinoma (mRC...
BACKGROUND: Keratoconus (KC) is a degenerative corneal disease with a complex etiology that severely affects vision. Butyrate is a saturated short-cha...
The human gut microbiome plays a critical role in maintaining host health and homeostasis, and current literature suggests a bidirectional relationshi...
Single-cell assay for transposase-accessible chromatin with sequencing (scATAC-seq) enables investigation of open chromatin landscapes at single-cell ...
UNLABELLED: Metastasis is the leading cause of cancer deaths. To develop strategies for intercepting metastatic progression, a better understanding of...
Drug-resistant epilepsy (DRE) is a complex neurological disease that accounts for 30%-40% of all epilepsy cases. Its pathogenesis and treatment have a...
Immunotherapy has revolutionized cancer treatment, yet characterizing the spatial complexity of the tumor immune microenvironment remains a challenge....
Skin aging reflects both intrinsic biological decline and extrinsic influences collectively known as the skin exposome, including ultraviolet (UV) rad...
Antiphage defense systems protect bacteria from viral infection and have inspired important biotechnologies such as CRISPR-Cas9 while also revealing t...
Sequence-based deep learning models have become the state of the art for analyzing the genomic regulatory code. Particularly for enhancers, these mode...
DNA microarray is a transformative technique in genomics, enabling simultaneous examination of thousands of gene expression levels. However, noise, hi...
BACKGROUND: Transthyretin amyloid cardiomyopathy (ATTR-CM) is a frequently underdiagnosed disease in which delay in diagnosis limits the efficacy of t...
OBJECTIVE: A significant residual risk of myocardial infarction (MI) persists in hypertensive patients treated with angiotensin receptor blockers (ARB...
Spiking Neural P system (SNP system) is a distributed parallel computing model inspired by the information processing of biological neurons. The SNP s...
A new AI model that predicts how noncoding DNA mutations alter gene regulation is helping cancer researchers identify which genetic changes drive tumo...