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. Author manuscript; available in PMC: 2013 Aug 27.
Published in final edited form as: Genet Med. 2012 Mar 1;14(4):385–392. doi: 10.1038/gim.2011.69

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