Table 1.
Overview of the Variables Mapped by the Mapping Tool
Biobank Structural Component |
Collections | Specific Items, Procedures, & Outcomes |
---|---|---|
Collected Samples | Blood: | Blood Spot, Cord, Venous (including Plasma, Serum) |
Cells: | Breast Milk, Buccal/Skin, Feces, Finger/Toe Nails, Hair, Placental Material, Reproductive, Urine | |
Tissues: | Non-Tumor, Tumor | |
Derived Materials | Cells/Cell Lines | |
Nucleic Acids: | DNAs: Nuclear DNA, mtDNA, cDNA | |
RNAs: mRNA, miRNA, other RNAs | ||
Derived Data | Cytogenetic: | CNVs, FISH, Karyotype |
Epigenetic & Imprinting: | E.g., Methylation Profiles, Chromatin | |
Genetic & Genomic: | From DNAs: Markers (e.g., SNPs, haplotypes, CNVs), Modification, Sequence | |
From RNAs: Expression Profiles, cDNA Sequence | ||
Analyses | Cytogenetic: | aCGH, FISH, Karyotyping |
Epigenetic & Imprinting: | E.g., Methylation, Chromatin | |
Genetic & Genomic: | Using DNAs: Markers (e.g., Association, Linkage, Haplogroup Identification,), Modification (e.g., DNA Adduct), Sequencing (e.g., Targeted, Whole Genome) Using RNAs: Expression | |
Results | Cytogenetic: | Neutral, Deletion, Expansion, Sex Chromosome Constitution |
Epigenetic & Imprinting: | E.g., Methylation: Neutral, Hyper-methylation, Hypomethylation | |
Genetic & Genomic: | With Expression: Low, High, Normal, Expression of Structural Variants | |
With Linkage: Evidence for Linkage, Linkage Excluded | ||
With Markers: Ancestry, Physical Traits, Sex Chromosome Constitution, Variants (i.e., Predictive, Protective, Unknown Significance) | ||
With Sequencing: Benign Polymorphism, Deleterious Mutation, Neutral, Variant of Unknown Significance |