Whole genome sequencing
Whole genome sequencing reads broadly across the genome and is the strongest fit for deep inspection. It can support review of single nucleotide variants, small insertions and deletions, mitochondrial variants, copy number variants, and structural variants when the input and processing pipeline provide them.
Whole exome sequencing
Whole exome sequencing focuses on protein-coding regions. It can be useful for gene-oriented review when the question is primarily about coding variants, but it does not provide the same breadth as whole genome sequencing.
Raw SNP and genotyping files
SNP arrays are cost-effective and quick, but they only report variants at predetermined locations. They can be useful for common markers and ancestry-oriented data, while missing many rare mutations and structural variations.
Choosing the right input
Use the broadest and best-quality data available for the question. Gene Inspector Pro can help organize and inspect supported files, but the result still depends on the quality, coverage, and variant calls present in the uploaded data.
