Table A3.
Study Design parameters influencing the construction of a research study and associated genetic toolbox are written and described in the table above.
| Parameter | Symbol | Data Type | Description |
|---|---|---|---|
| Number of Samples | Samples | Number of distinct tissue biopsies to be drawn from each “tumor” site | |
| Type of Sample | sample | None | Defines how a sample is taken from the cell population (generally solid or liquid biopsy, though other methods like liquid capture microdissection are less commonly used) |
| Number of sequencing protocols taken on the sample | Integer | Number of individual sequencing protocols taken on the sample | |
| Number of single cells used in a sequencing protocol | Integer | Number of single cells operated upon under a singular sequencing protocol. If zero, no single cells are generated and only bulk sequencing is performed. | |
| Read Length | Integer –number of Bases | Size of reads to be generated from sequencer | |
| Fragment Length | Integer –number of bases | Defines a superstring from which reads are derived during the sequencing process | |
| Depth/Coverage | Integer – reads per Base | Average number of times each nucleotide of the genome is sequenced | |
| Error Rate | Float – Fraction of Incorrectly Sequenced Bases | Rate of Incorrectly sequenced nucleotides | |
| Paired-End/Single-end | Paired | Boolean | Binary parameter describing whether the reads are paired end or single end. Paired-end reads have two related reads derived from the same fragment. |
| Whole Genome/Whole Exome/Targeted Sequencing | Genome | Boolean | Binary parameter describing whether the sequencer extracts genes from the entire genome or only a subset of the genome |
| Informatics Tools | Informatics | Categorical/numerical | A parameter describing the type of informatics software used to analyze a sequencing protocol for information. Notably the encoding is flexible, and could be represented many different ways. |