Latest AI and machine learning research in genetics for healthcare professionals.
Stroke is one of the leading causes of death and long-term disability globally. Several studies have investigated the incidence and predictors of stroke in the healthy population; only a few have specifically focused on stroke risk prediction among individuals with hypertension. Given that hypertension is the most common modifiable risk factor for stroke, this represents an important research area...
Progressive supranuclear palsy (PSP) is a heterogeneous neurodegenerative disease characterised by the accumulation of misfolded 4-repeat tau within neurones and glial cells. There is limited longitudinal data on pathologically confirmed PSP patients with phenotypes other than classical Richardson’s syndrome (RS), and the pathomechanisms responsible for the broad variability in clinical phenotype ...
Early-onset colorectal cancer (EOCRC; <50 years) incidence is increasing most rapidly among Hispanic/Latino (H/L) populations. While the transforming ...
Multifetal pregnancies are associated with increased risk for preeclampsia (PreE), but the underlying pathogenesis may differ from singleton gestation...
Acute Myeloid Leukemia (AML) is a genetically and clinically heterogeneous disease that can develop at any age. While AML incidence increases with age...
Manual data extraction from genomic lab reports for on-line registries and databases is time-consuming for human resources such as clinical research c...
Early-onset colorectal cancer (EOCRC), defined as diagnosis before age 50, is rising rapidly and disproportionately affects high-risk populations, par...
Each piece of cell-free DNA (cfDNA) has a length determined by the exact metabolic conditions in the cell it belonged to at the time of cell death. Th...
Sphericity is a measurement of how closely an object approximates a globe. The sphericity of the blood pool of the left ventricle (LV), is an emerging...
Disease heterogeneity and commonality pose significant challenges to precision medicine, as traditional approaches frequently focus on single disease ...
Deep learning models applied to digital histology can predict gene expression signatures (GES) and offer a low-cost, rapidly available alternative to ...
Despite biomarker-guided treatment strategies, clinical outcomes among patients with type 2 (T2)-high asthma remain heterogeneous, with some patients ...
Accurate prognostic models are essential for guiding treatment decisions and improving patient outcomes in breast cancer. To achieve this, population-...
Generalized anxiety disorder (GAD) is a common psychiatric condition, with unknown etiology and pathophysiology. Recent studies have suggested alterat...
Anophthalmia and microphthalmia (A/M) are rare congenital eye disorders with a low molecular diagnosis rate, which limits clinical management and gene...
Rare genetic aortopathies are frequently undiagnosed due to phenotypic heterogeneity, and delayed diagnosis can lead to fatal cardiac outcomes. While ...
Pathology reporting of colorectal cancer (CRC) follows the International Collaboration on Cancer Reporting (ICCR) guidelines which define a set of 25 ...
The COVID-19 pandemic highlighted the critical need for robust methods to monitor viral evolution and detect emerging variants of concern (VOCs). Trad...
White adipose tissue dysfunction has emerged as a critical factor in cardiometabolic disease development, yet the cellular microstructure and genetic ...
DNA foundation models offer a new approach to interpret genetic variation, but their potential in population-scale genomics remains untapped. We intro...