Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process
Table 4
What is needed for a genetic study?
Material
Notes
“Sufficient” number of high-quality sequencing/genotype data
Amount needed can vary from one proband and a few family members (for very rare Mendelian disorders) to thousands of cases and controls (for certain common complex disorder/traits)
The most important factors when carrying out a genetic association study are (i) the availability of reliable data (ii) bioinformatics and biological expertise, and (iii) careful planning.