Latest AI and machine learning research in genetics for healthcare professionals.
The TOMM40’523 poly-T repeat polymorphism (rs10524523), located in the TOMM40 gene and in linkage disequilibrium with APOE, has been associated with cognitive decline and Alzheimer’s disease (AD) progression. Accurate genotyping of this polymorphism is crucial for understanding its role in neurodegeneration. Challenges in processing whole-genome sequencing (WGS) data traditionally require addition...
Population screening for rare genetic diseases is limited by the high cost of next- generation sequencing. Double-batched sequencing (DoBSeq) is a cost-effective method for assigning rare variants to individuals using two-dimensional unique double- pooled sequencing. However, this method produces complex, high-depth sequencing data that requires a specialized workflow for efficient and reproducibl...
Despite long-standing success of hematopoietic stem cell transplantation (HSCT) in the treatment of blood cancers and severe immune disorders, monitor...
The molecular profiling of gliomas for isocitrate dehydrogenase (IDH) mutations currently relies on resected tumor samples, highlighting the need for ...
GM1 gangliosidosis is an inherited, progressive, and fatal neurodegenerative lysosomal storage disorder with no approved treatment. We calculated a pr...
Cardiometabolic diseases are multifactorial disorders influenced by numerous genetic variants and their complex interactions. Although recent studies ...
Lower respiratory tract infections (LRTIs) are a leading cause of mortality worldwide and can be difficult to diagnose in critically ill patients, as ...
Predicting the early onset of dementia due to Alzheimer’s Disease (AD) has major implications for timely clinical management and outcomes. Current dia...
Primary age-related tauopathy (PART) and Alzheimer’s disease (AD) share hippocampal phospho-tau (p-tau) pathology but differ in ß-amyloid burden and d...
Early-onset colorectal cancer (EOCRC) is rising rapidly, particularly among Hispanic/Latino (H/L) populations, who face disproportionately poor outcom...
Polygenic risk scores (PRSs) serve as quantitative metrics of genetic liability for various conditions. Traditionally calculated as an effect size wei...
Targeted next generation sequencing (NGS) of somatic DNA is now routinely used for diagnostic and predictive reporting in the oncology clinic. The exp...
Bacterial vaginosis (BV) is a dysbiosis of the vaginal microbiome, characterized by the depletion of protective Lactobacillus spp. and overgrowth of a...
Genomic testing has transformed treatment decisions for hormone receptor-positive, HER2-negative (HR+/HER2-) early breast cancer; however, it remains ...
The WNT signaling pathway plays a critical role in colorectal cancer (CRC) initiation and progression, particularly in early-onset cases among underse...
Parkinson’s disease (PD) is a progressive neurodegenerative disorder characterized by motor and non-motor symptoms. DNA repair dysfunction and integra...
Kabuki Syndrome (KS) is a rare multisystem disorder with a variable clinical phenotype. The majority of KS cases are caused by dominant loss-of-functi...
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex, heterogeneous, and systemic disease defined by a suite of symptoms, includin...
Understanding the genetic architecture of schizophrenia (SCZ) is invaluable for the development of personalized treatment. In three independent cohort...
Alzheimer’s disease (AD) is a complex neurodegenerative disorder with limited therapeutic options. The original DeepDrug framework by Li et al. (2025)...