Revisiting Mutational Resistance to Ampicillin and Cefotaxime in Haemophilus influenzae

Revisiting Mutational Resistance to Ampicillin and Cefotaxime in Haemophilus influenzae Background and Motivation for the Study Haemophilus influenzae is an opportunistic bacterial pathogen that can cause severe respiratory tract infections and invasive infections such as septicemia and meningitis, particularly in infants, the elderly, and immunoco...

Using Multiplexed Functional Data to Reduce Variant Classification Inequities in Underrepresented Populations

Title: “Using Multiplexed Functional Data to Reduce Variant Classification Inequities in Underrepresented Populations” Authors and Publishing Information: The paper, authored by Moez Dawood et al., is published in the journal Genome Medicine (2024, Volume 16, Issue 143). The authors represent multiple institutions such as Baylor College of Medicine...

Integrated Analyses of Multi-Omic Data Reveal Metabolic Vulnerability as a Novel Therapeutic Target in Lung Cancer Brain Metastases

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...

Genome-aware annotation of CRISPR guides validates targets in variant cell lines and enhances discovery in screens

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

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...

Mapping In Silico Genetic Networks of the KMT2D Tumour Suppressor Gene to Uncover Novel Functional Associations and Cancer Cell Vulnerabilities

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

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

“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

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

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...