BioMed Research International / 2015 / Article / Tab 4

Review Article

Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process

Table 4

What is needed for a genetic study?


“Sufficient” number of high-quality sequencing/genotype dataAmount 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)

List of candidate genesWebsites such as and; and software such as SNPs3D can be helpful

Identification of variant calling toolSuch as in Table 2

Identification of variant effect predictor toolSuch as in Table 3; tools usually require conversion of VCF to VEP format (Ensembl website)

Knowledge of human population variation databasesThat is, HapMap, 1000 Genomes Project, EVS, dbSNP, and internal databases

Knowledge of databases storing information about genes and their productsThat is, OMIM, Gene (NCBI), GeneCards, Unigene (NCBI), GEO Profiles (NCBI), HomoloGene (NCBI), and Mouse knockout databases (such as, and Search the literature using PubMed and/or Web of Science.

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.

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