Coremine Medical

CoreMine Medical interprets copy-number variants (CNVs) from array platforms and integrates genotype information from single-nucleotide polymorphism (SNP) probes to support clinical and research CNV analysis.

Key Features:

• CNV detection and interpretation: Detects and interprets CNVs from array-based datasets including comparative hybridization, comparative intensity, and genotype-based array data.
• SNP genotype interpretation: Interprets genotype information from single-nucleotide polymorphism (SNP) probes to inform CNV calls and zygosity assessment.
• Resource integration: Integrates data from public Internet databases, host laboratories' own datasets, and national registries to provide contextual evidence for CNV interpretation.
• Data interpretation strategy: Provides a general strategy for interpreting comparative hybridization, comparative intensity, and genotype-based array data and summarizes characteristics of commonly used Internet databases for fitness-for-purpose assessment.

Scientific Applications:

• Clinical diagnostics: Interpretation of CNVs from array platforms to support geneticists, molecular biologists, and clinicians in diagnostic decision-making.
• Research on structural variation: Analysis and contextualization of CNVs for studies of genomic structural variation and genotype–phenotype relationships.
• Personalized medicine: Integration of CNV and SNP-genotype evidence with registry and laboratory datasets to inform individualized genomic assessments.

Methodology:

Computational detection and interpretation of CNVs from array platforms; interpretation of SNP-probe genotype data; integration of public Internet databases, host laboratory datasets, and national registries; summarization of database characteristics and provision of a general strategy for interpreting comparative hybridization, comparative intensity, and genotype-based array data.