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

Medicine, Oncology, Life Sciences, Cell Biology, Bioengineering, Genetics,
CRISPR   genome annotation   bioinformatics   computational biology   software tool  

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

Medicine, Infectious Diseases, Environmental and Public Health, Life Sciences, Genetics, Microbiology,
genomic surveillance   multidrug-resistant organisms   long-read sequencing   nanopore sequencing   MLST   WGMLST   WGS  

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

Medicine, Oncology, Life Sciences, Cell Biology, Biochemistry, Genetics,
tumour suppressor genes   KMT2D   genetic networks   synthetic lethality   WRN inhibitors  

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

Medicine, Oncology, Life Sciences, Cell Biology, Genetics,
single-cell analysis   epigenetic regulation   breast cancer heterogeneity   tamoxifen resistance   core signature   tumor microenvironment   BMP7  

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

Medicine, Oral Sciences, Life Sciences, Genetics,
tooth morphology   gene expression   Neanderthal   tooth development   genome-wide association analysis  

“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

Medicine, Oncology, Life Sciences, Genetics,
CHEK2   low-risk variants   cancer phenotypes   breast cancer   genetic modifiers  

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...