However, it was primarily designed for clinical variant data storage, variant classification, and report generation.
Each variant was analysed in turn and together using a collapsing method, originally designed for rare variant analysis.
Fig. 14 a, b Pulse shapes designed for time-variant channel.
A Sequenom iPlex Gold (Sequenom, Inc, San Diego, CA, USA) experiment was designed for 21 variants (Additional file 9: Table S4).
Therefore, other family-based methods designed for rare variants, such as methods proposed in [ 46, 47], should be used to test a set of rare variants.
In brief, CaVEMan is a somatic base substitution caller that utilizes an expectation maximization (EM) algorithm and is designed for calling variants in new sequencing technology reads.
Following the initial BAC library screen, PCR primer pairs were also designed for PPO1 variants PPO1/2, PPO1/4 and PPO1/5 (Table 2).
Using a genotyping platform designed for specific variants associated with pharmacogenomic traits also reduces the ethical concerns raised regarding next-generation sequencing, which may identify incidental genetic findings such as genetic variants associated with disease risk [ 76].
Eventually, HIA-inspired analysis of potentially pathogenic mt-rRNA variations, in the context of a scoring system specifically designed for these variants, could lead to a powerful diagnostic tool.
