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Block-Sphere Vector Quantization GroupAffect-4: A Multimodal Dataset of Four-Person Collaborative Interaction CogScale: Scalable Benchmark for Sequence Processing TextAlign: Preference Alignment for Text Rendering with Hierarchical Rewards LogRouter: Adaptive Two-Level LLM Routing for Log Question Answering in Big Data Systems Agentic Cost-Aware Query Planning with Knowledge Distillation for Big Data Analytics Covariance Structure and Coordinate Heterogeneity Govern Binary Quantization of Contrastive Embeddings IVF-TQ: Calibration-Free Streaming Vector Search via a Codebook-Free Residual Layer Automatic Unsupervised Ensemble Outlier Model Selection--Extended Version A Generative AI Framework for Intelligent Utility Billing CO 2 Analytics and Sustainable Resource Optimisation Towards Foundation Models for Relational Databases with Language Models and Graph Neural Networks Gaussian Relational Graph Transformer Croissant Baker: Metadata Generation for Discoverable, Governable, and Reusable ML Datasets Reducing Hallucination in Vision-Language Models via Stage-wise Preference Optimization under Distribution Shift A Horn extension of DL-Lite with NL data complexity 3D Primitives are a Spatial Language for VLMs Enabling AI-Native Mobility in 6G: A Real-World Dataset for Handover, Beam Management, and Timing Advance A CAP-like Trilemma for Large Language Models: Correctness, Non-bias, and Utility under Semantic Underdetermination EpiCastBench: Datasets and Benchmarks for Multivariate Epidemic Forecasting FERMI: Exploiting Relations for Membership Inference Against Tabular Diffusion Models Toward Multi-Database Query Reasoning for Text2Cypher Autonomous FAIR Digital Objects: From Passive Assertions to Active Knowledge HOME-KGQA: A Benchmark Dataset for Multimodal Knowledge Graph Question Answering on Household Daily Activities Detect, Localize, and Explain: Interactive Hierarchical Log Anomaly Analytics with LLM Augmentation Open Ontologies: Tool-Augmented Ontology Engineering with Stable Matching Alignment Machine Learning-Based Pre-Test Risk Stratification for PCR-Confirmed Chlamydia Using Patient-Reported Data and Urine Biomarkers Reconciling Consistency-Based Diagnosis with Actual-Causality-Based Explanations PrepBench: How Far Are We from Natural-Language-Driven Data Preparation? Anatomy of a Query: W5H Dimensions and FAR Patterns for Text-to-SQL Evaluation Building informative materials datasets beyond targeted objectives
BRCA Gene Mutations in dbSNP: A Visual Exploration of Gen...
Woowon Jang, Shiwoo Koak, Jiwon Im, Utku Ozbulak, Joris Vankersc · 2023-09-01 · via cs.DB updates on arXiv.org

BRCA genes, comprising BRCA1 and BRCA2 play indispensable roles in preserving genomic stability and facilitating DNA repair mechanisms. The presence of germline mutations in these genes has been associated with increased susceptibility to various cancers, notably breast and ovarian cancers. Recent advancements in cost-effective sequencing technologies have revolutionized the landscape of cancer genomics, leading to a notable rise in the number of sequenced cancer patient genomes, enabling large-scale computational studies. In this study, we delve into the BRCA mutations in the dbSNP, housing an extensive repository of 41,177 and 44,205 genetic mutations for BRCA1 and BRCA2, respectively. Employing meticulous computational analysis from an umbrella perspective, our research unveils intriguing findings pertaining to a number of critical aspects. Namely, we discover that the majority of BRCA mutations in dbSNP have unknown clinical significance. We find that, although exon 11 for both genes contains the majority of the mutations and may seem as if it is a mutation hot spot, upon analyzing mutations per base pair, we find that all exons exhibit similar levels of mutations. Investigating mutations within introns, while we observe that the recorded mutations are generally uniformly distributed, almost all of the pathogenic mutations in introns are located close to splicing regions (at the beginning or the end). In addition to the findings mentioned earlier, we have also made other discoveries concerning mutation types and the level of confidence in observations within the dbSNP database.