Articles
Articles for reading DNA files
Guides for genes, variants, pathways, scores, and supported file types in Gene Inspector Pro.
Topics
ABCC11 gene, dry earwax, and body odor
ABCC11 rs17822931 strongly predicts wet or dry earwax and changes specific underarm odor precursors. It does not determine whether someone has any body odor.
COMT gene variants and catecholamines
COMT helps metabolize catecholamines and catechol estrogens. Val158Met changes enzyme activity and has reported trait associations, but it is not a deterministic personality label.
MTHFR C677T and A1298C: what these variants mean
C677T has a measurable effect on MTHFR enzyme activity. A1298C alone has a less clear effect, and neither variant is a diagnosis.
A short history of the human reference genome
The original reference genome was a patchwork: about 70% from one anonymous donor and the rest from 19 other anonymous donors.
Allele frequency and MAF in variant review
Allele frequency and MAF help you judge whether a variant is common or rare. They do not decide whether the variant matters by themselves.
Estrogen-related genes and hormone metabolism
Estrogen-related genes affect hormone production, receptor signaling, metabolism, and elimination, including CYP19A1, ESR1, ESR2, COMT, SULT1E1, and UGT1A1.
AlphaMissense and DANN scores
Gene Inspector Pro shows AlphaMissense and DANN scores for structure-aware missense prediction and genome-wide variant prioritization.
SNP array support and mtDNA panel
Gene Inspector Pro accepts raw data from AncestryDNA, FamilyTreeDNA, 23andMe, and MyHeritage, plus a mitochondrial DNA panel for WGS files.
Essential genes in vitamin D metabolism
Vitamin D metabolism depends on genes involved in activation, transport, receptor signaling, and degradation, including CYP2R1, CYP27B1, CYP24A1, GC, and VDR.
Splice variants and protein changes
Splice variants can change how exons are included in RNA transcripts, which can alter the resulting protein.
User panels for focused gene review
User panels let you create reusable gene lists, keep review work organized, and compare the same genes across genome files.
Inheritance tracking for family variant review
Inheritance marks help you record whether a variant appears maternal, paternal, possible de novo, or uncertain during family review.
Highlighted variants
Highlighted variants keep selected mutations visible on the Gene page, including variants that are not detected in the uploaded DNA file.
How to read the Gene page
The Gene page combines gene context, variant tables, genotype calls, external references, predictor scores, and your own review marks.
What is a missense variant?
A missense variant changes a DNA letter in a way that swaps one amino acid in the resulting protein.