: Data on genetic variants (SNPs and indels) identified within the protein-coding regions of the genome.
: Information on capture efficiency, target regions, and sequencing depth.
: Exome reports often require a healthcare provider or genetic counselor to interpret clinical relevance.
Based on technical documentation and medical reporting standards, a "report" for an exome file typically includes: 🧬 Content Overview
: Analysis of established disease genes associated with genetic disorders.
: Raw or aligned sequencing reads (though these are often too large for standard zip files).
: Standard exome tests may not detect repeat expansion disorders, mitochondrial DNA mutations, or balanced translocations. Resources | 3billion
