Table 1.
Data type | Description | Common techniques | Public availabilitya |
---|---|---|---|
SNP | A single nucleotide variation in a genetic sequence | SNP array: most widely used | **** |
Whole genome sequencing | |||
CNV | Variation of the number of copies of a particular gene in the genetic sequence | SNP array: most widely used; less sample DNA required; high probe density and coverage | **** |
Comparative genome hybridization: high sensitivity and specificity; low spatial resolution | |||
Whole genome sequencing: can detect smaller CNVs and novel types (e.g., inversions) | |||
Mutation | A permanent change of the nucleotide sequence of the DNA; mostly somatic mutation that occurs in any of the cells except the germ cells | Whole exome sequencing: most widely used | **** |
Whole genome sequencing: more expensive and more coverage | |||
Gene expression | Mostly expression of mRNA but also includes expression of other transcripts | Microarray: most widely used | ***** |
RNA‐Seq: can detect novel transcripts, low abundant transcripts and isoforms | |||
Fluorescent in situ hybridization: can detect transcript abundance and spatial location in cells for a small number of genes | |||
RT‐PCR: frequently used to confirm expression for a small number of genes | |||
Protein expression | Can be expression of multiple isoforms or variations due to posttranslational modifications | Western blot: widely used to quantify protein expression for a small number of proteins | *** |
ELISA: widely used to detect and quantitatively measure a protein in samples | |||
Immunohistochemistry: can detect intracellular localization for a small number of proteins | |||
Reverse phase protein array: can detect expression for a few hundred proteins | |||
Mass spectrometry: can detect expression for a wide range of proteins | |||
Protein‐protein interaction | Physical interactions between two or more proteins | Two‐hybrid screening: low‐tech; high false‐positive rate | **** |
Mass spectrometry | |||
Protein‐DNA interaction | Binding of a protein to a molecule of DNA | ChIP‐seq: combines chromatin immunoprecipitation with massively parallel DNA sequencing to identify the binding sites of DNA‐associated proteins | *** |
Gene silencing | Effect of loss of gene function | RNAi: established method; knocks gene down at mRNA or non‐coding RNA level; can have transient effect (siRNA) or long‐term effect (shRNA) | ** |
CRISPR‐Cas9: new method; modifies gene (via knockout/knockin) at the DNA level; causes permanent and heritable changes in the genome | |||
Gene overexpression | Effect of gain of gene function | cDNAs/ORFs: provide clones of sequence | * |
Drug efficacy | Effect of drug treatment; primarily represented as IC50/EC50/GI50 in vitro | HTS: rapidly assess the activity of a large number of compounds in biochemical assays or cell‐based assays | *** |
MTT assay: often used to confirm activity for a small number of compounds | |||
Drug‐target interaction | Physical interaction between a drug and a protein target | Affinity chromatography with mass spectrometry: most sensitive and unbiased method | *** |
SPR | |||
EMR/EHR | Patient response upon interventions | Digitalization | * |
CNV, copy number variation; CRISPR, clustered regularly interspaced short palindromic repeats; ELISA, enzyme‐linked immunosorbent assay; EMR/HER, electronic medical/health records; HTS, high throughput screening; MTT, methylthiazol tetrazolium; RT‐PCR, real‐time polymerase chain reaction; SNP, single‐nucleotide polymorphism; SPR, surface plasmon resonance.
Indicates the degree of public availability. For example, ***** shows researchers could easily access this type of data via public portals.