Report on the Multi-Omics Study of Lung Cancer Brain Metastases (LC-BMs) Academic Background Lung cancer is one of the most prevalent and deadly cancers worldwide. Lung cancer brain metastases (LC-BMs) are a common complication in patients with lung cancer and are associated with poor prognosis. Despite advances in lung cancer therapies, the standa...
Genomic Medicine and Re-annotation of CRISPR Guides: Application and Validation of the EXORCISE Algorithm Academic Background The advent of CRISPR-Cas9 technology has revolutionized genetic screening, particularly in studying gene essentiality and chemo-genetic interactions. By designing guide RNAs (gRNAs) that target specific genes, the CRISPR-Cas...
Genomic Surveillance of Multidrug-Resistant Organisms Based on Long-Read Sequencing Research Background Multidrug-resistant organisms (MDROs) are a significant global public health threat. These organisms exhibit resistance to multiple antibiotics, making infections challenging to treat and increasing healthcare costs. To effectively monitor and co...
Academic Background and Problem Statement Loss-of-Function (LOF) mutations in Tumor Suppressor Genes (TSGs) are prevalent in cancer. However, therapeutic strategies directly targeting these mutations are challenging due to the loss or reduction of encoded protein function, which in normal states plays a role in inhibiting aberrant cell proliferatio...
Integrated Single-Cell Analysis Reveals Distinct Epigenetic-Regulated Cancer Cell States and a Heterogeneity-Guided Core Signature in Tamoxifen-Resistant Breast Cancer Academic Background Breast cancer is one of the most common cancers in women, and endocrine therapy (e.g., tamoxifen) is the standard treatment for estrogen receptor α (ER)-positive ...
“PITX2 Expression and Neanderthal Introgression in HS3ST3A1 Contribute to Variation in Tooth Dimensions in Modern Humans” Source of the Research This paper was authored by Qing Li, Pierre Faux, Emma Wentworth Winchester, and others, and published on January 6, 2025, in the journal Current Biology. The authors come from various research institutions...
Association of CHEK2 Low-Risk Variants with Cancer Phenotypes Academic Background The CHEK2 gene (OMIM 604373) is one of the susceptibility genes for breast cancer. Monoallelic pathogenic variants (PVs) in CHEK2 are associated with an increased risk of breast, colorectal, kidney, and thyroid cancers. However, there is limited research on the phenot...
Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases Academic Background Inherited retinal diseases (IRDs) are a group of degenerative retinal disorders caused by genetic mutations, which can lead to vision loss or even blindness. With advances in gene discovery and next-generation DNA sequencing, an increasing number of pat...
Primary Open-Angle Glaucoma Polygenic Risk Score and Risk of Disease Onset: A Post Hoc Analysis Academic Background Primary open-angle glaucoma (POAG) is the most common form of glaucoma, often associated with elevated intraocular pressure (IOP). It is an irreversible optic neuropathy that, if untreated, can lead to vision loss. While IOP-lowering ...
Research on Juvenile Xanthogranuloma Reveals Novel Genetic Mutations Juvenile xanthogranuloma (JXG), a rare histiocytic neoplasm, typically manifests in the skin but occasionally presents extracutaneously in locations such as soft tissue or the central nervous system (CNS). The genetic drivers underlying these extracutaneous variants remain poorly ...