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[Preprint]. 2024 Mar 15:2024.03.14.585055. [Version 1] doi: 10.1101/2024.03.14.585055

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 s 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 ith sample li Integer Number of individual sequencing protocols taken on the sample i
Number of single cells used in a sequencing protocol n 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 rl Integer –number of Bases Size of reads to be generated from sequencer
Fragment Length fl Integer –number of bases Defines a superstring from which reads are derived during the sequencing process
Depth/Coverage c Integer – reads per Base Average number of times each nucleotide of the genome is sequenced
Error Rate e 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.