Study of Structural Variation in MECP2 Duplication Syndrome and Its Phenotypic Variability Academic Background MECP2 Duplication Syndrome (MRXSL) is an X-linked genomic disorder primarily caused by an increase in the copy number of the MECP2 gene on the X chromosome. This condition predominantly affects males, and its clinical features vary widely,...

Epigenome-wide DNA Methylation Study Highlights PTSD-Associated Sites: A Meta-Analysis Across 23 Military and Civilian Cohorts Background and Research Objectives Post-Traumatic Stress Disorder (PTSD) is a serious psychiatric condition triggered by exposure to traumatic events. It is characterized by intrusive memories, avoidance or emotional numbne...

Background and Research Question Ovarian cancer, as a fatal gynecological malignancy, has become the focus of recent studies, particularly on expanding the feasibility of targeted therapies. The introduction of poly(ADP-ribose) polymerase (PARP) inhibitors has marked a groundbreaking treatment option for ovarian cancer, especially for patients with...

Executive Report on the Study of ccRCC Regulatory Mechanisms Using the SIRCLE Model Background Overview Clear Cell Renal Cell Carcinoma (ccRCC) is the most prevalent form of kidney cancer, accounting for 70% of renal malignancies. The development and progression of ccRCC involve intricate remodeling of the kidney epigenome, transcriptome, proteome,...

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...

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...

Report on the Research Paper: Comprehensive Pathogen Identification and Antimicrobial Resistance Prediction from Positive Blood Cultures Using Nanopore Sequencing Technology Academic Context Bloodstream infections (BSIs) are severe clinical conditions typically diagnosed through positive blood culture results and systemic signs of infection. BSIs c...

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...