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Exactly what we analyse

No buying blind, and no black box. Here is every gene, condition and trait we examine, by name, and what each kind of file unlocks. Both the counts and the names are generated from the same registries the pipeline runs, so this page can't quietly disagree with your report.

What each file type unlocks

A number is how many items we examine in a module; a tick means included; a dash means that file type can't deliver it. Counts are the most a file of that type can unlock, version-stamped (2026-07-16).

What each file type unlocks, module by module
What you get Chip WGS WGS + Deep Read
Clinical findings 2 examined 39 examined 39 examined
Carrier status Not available 55 examined 55 examined
Pharmacogenomics 8 examined, see note 8 examined 8 examined
Traits 23 examined 23 examined 23 examined
Frontier 38 examined 38 examined 38 examined
The Fringe 22 examined 22 examined 22 examined
Polygenic scores 4 examined 4 examined 4 examined
Ancestry: maternal (mtDNA) 11 examined 11 examined 11 examined
Ancestry: paternal (Y-DNA) 14 examined 14 examined 14 examined
APOE risk allele (e4) Included Included Included
Lp(a) level Included Included Included
Hemochromatosis (HFE) variants Included Included Included
ABO blood type Included Included Included
APOL1 risk variants Included Included Included
Deep Read: 29-gene PGx panel + callability Not available Not available 29 examined

 Array-dependent: only the genes whose defining SNPs your chip typed.

A number is how many items we examine; means included; a dash () means that file type can't deliver it. Counts are the most a file of that type can unlock, not a promise for every file.

Medications we cover

The Deep Read pharmacogenomic panel restates CPIC guidance for 74 medications across the 29-gene panel — the same kind of pharmacogenomic read a test like GeneSight sells, but run from aligned-reads (BAM/CRAM) data you already own. Here is every medication it covers, with the gene(s) that inform it.

  • aminosalicylic acid G6PD
  • amitriptyline CYP2C19
  • aspirin G6PD
  • atazanavir UGT1A1
  • atorvastatin SLCO1B1
  • azathioprine NUDT15TPMT
  • capecitabine DPYD
  • chloramphenicol G6PD
  • chloroquine G6PD
  • ciprofloxacin G6PD
  • citalopram CYP2C19
  • clomipramine CYP2C19
  • clopidogrel CYP2C19
  • Codeine / tramadol CYP2D6
  • dapsone G6PD
  • desflurane CACNA1S
  • dexlansoprazole CYP2C19
  • dimercaprol G6PD
  • doxepin CYP2C19
  • doxorubicin G6PD
  • efavirenz CYP2B6
  • enflurane CACNA1S
  • escitalopram CYP2C19
  • fluorouracil DPYD
  • fluvastatin SLCO1B1
  • furazolidone G6PD
  • glyburide G6PD
  • halothane CACNA1S
  • hydralazine NAT2
  • hydroxychloroquine G6PD
  • imipramine CYP2C19
  • isoflurane CACNA1S
  • lansoprazole CYP2C19
  • lovastatin SLCO1B1
  • mafenide G6PD
  • mercaptopurine NUDT15TPMT
  • methoxyflurane CACNA1S
  • methylene blue G6PD
  • nalidixic acid G6PD
  • nitrofurantoin G6PD
  • norfloxacin G6PD
  • NSAIDs (e.g. celecoxib, ibuprofen) CYP2C9
  • ofloxacin G6PD
  • omeprazole CYP2C19
  • pantoprazole CYP2C19
  • pegloticase G6PD
  • phenazopyridine G6PD
  • pitavastatin SLCO1B1
  • pravastatin SLCO1B1
  • primaquine G6PD
  • quinine G6PD
  • rasburicase G6PD
  • rosuvastatin ABCG2SLCO1B1
  • sertraline CYP2B6CYP2C19
  • sevoflurane CACNA1S
  • simvastatin SLCO1B1
  • succinylcholine CACNA1S
  • sulfadiazine G6PD
  • sulfadimidine G6PD
  • sulfamethoxazole / trimethoprim G6PD
  • sulfanilamide G6PD
  • sulfasalazine G6PD
  • sulfisoxazole G6PD
  • tacrolimus CYP3A5
  • tafenoquine G6PD
  • Tamoxifen CYP2D6
  • thioguanine NUDT15TPMT
  • tolbutamide G6PD
  • toluidine blue G6PD
  • trimipramine CYP2C19
  • vitamin c G6PD
  • vitamin k G6PD
  • voriconazole CYP2C19
  • Warfarin CYP2C9

Many of these have a plain-language page of their own, from either direction: genes and your medications or medications and your DNA.

Coverage means the panel reads the gene that informs this drug; it is decision support for you and a prescriber, never an instruction to start, stop or change a medication. Restated from CPIC — never a diagnosis.

Get the report + Deep Read bundle Deep Read runs from a BAM/CRAM after your report; the bundle covers both.

Every gene, condition and trait, by name

Grouped by module, clinical first. Everything here is in the €119 whole-genome report, except the Deep Read panel, an add-on for aligned-reads (BAM/CRAM) files. A genotyping-chip file unlocks a lighter subset (see the table above). The absence of a finding is not a clean result; these are curated, reviewed panels, not a comprehensive genome-wide screen.

Clinical findings

39 items examined

Restated from ClinVar · ACMG SF v3.3

Pathogenic / likely-pathogenic variants in these genes, framed as personal risk. Needs a sequenced genome (WGS); a chip reads only a couple of these.

  • X-linked adrenoleukodystrophy ABCD1
  • Arrhythmogenic right ventricular cardiomyopathy PKP2, DSP, DSC2, DSG2, TMEM43
  • Biotinidase deficiency BTD
  • Cerebrotendinous xanthomatosis (CTX) CYP27A1
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT) RYR2, CASQ2, TRDN
  • Dilated cardiomyopathy (inherited) LMNA, FLNC, TTN, BAG3, DES, RBM20, PLN
  • Fabry disease GLA
  • Factor V Leiden thrombophilia F5
  • Familial hypercholesterolemia LDLR, APOB, PCSK9
  • Familial adenomatous polyposis APC
  • Hereditary Breast and Ovarian Cancer BRCA1, BRCA2
  • Hereditary paraganglioma-pheochromocytoma SDHB, SDHC, SDHD, SDHAF2, MAX, TMEM127
  • Heritable thoracic aortic disease TGFBR1, TGFBR2, SMAD3, ACTA2, MYH11
  • Hereditary haemorrhagic telangiectasia (HHT) ACVRL1, ENG
  • Hypertrophic cardiomyopathy MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL3, MYL2, ACTC1, TNNC1, PRKAG2
  • Juvenile polyposis syndrome BMPR1A, SMAD4
  • Li-Fraumeni syndrome TP53
  • Long QT syndrome KCNQ1, KCNH2, SCN5A, CALM1, CALM2, CALM3
  • Lynch syndrome MLH1, MSH2, MSH6, PMS2, EPCAM
  • Malignant hyperthermia susceptibility RYR1, CACNA1S
  • MUTYH-associated polyposis MUTYH
  • Marfan syndrome FBN1
  • Multiple endocrine neoplasia type 1 MEN1
  • Multiple endocrine neoplasia type 2 RET
  • Maturity-onset diabetes of the young (HNF1A-MODY) HNF1A
  • NF2-related schwannomatosis (neurofibromatosis type 2) NF2
  • Ornithine transcarbamylase (OTC) deficiency OTC
  • Peutz-Jeghers syndrome STK11
  • Pompe disease GAA
  • Prothrombin G20210A thrombophilia F2
  • PTEN hamartoma tumour syndrome PTEN
  • Hereditary retinoblastoma RB1
  • RPE65-related retinal dystrophy RPE65
  • Hereditary transthyretin amyloidosis TTR
  • Tuberous sclerosis complex TSC1, TSC2
  • Vascular Ehlers-Danlos syndrome COL3A1
  • Von Hippel-Lindau syndrome VHL
  • Wilson disease ATP7B
  • WT1-related Wilms tumour predisposition WT1

Carrier status

55 items examined

Restated from ACMG Tier 3 · ACOG carrier panel

A recessive-lens read for family planning. Needs WGS.

  • MCAD deficiency carrier ACADM
  • Aspartylglucosaminuria (AGU) carrier AGA
  • APECED (autoimmune polyendocrinopathy) carrier AIRE
  • Canavan disease carrier ASPA
  • Citrullinemia type I carrier ASS1
  • Wilson disease carrier ATP7B
  • Maple syrup urine disease carrier BCKDHB
  • GRACILE syndrome carrier BCS1L
  • Bloom syndrome carrier BLM
  • Biotinidase deficiency carrier BTD
  • Cystic fibrosis carrier CFTR
  • CLN5 disease carrier CLN5
  • Northern epilepsy (CLN8) carrier CLN8
  • Usher syndrome type 3A carrier CLRN1
  • Cystinosis carrier CTNS
  • Imerslund-Gräsbeck syndrome (B12 malabsorption) carrier CUBN
  • Cerebrotendinous xanthomatosis (CTX) carrier CYP27A1
  • Smith-Lemli-Opitz syndrome carrier DHCR7
  • Familial dysautonomia carrier ELP1
  • Tyrosinemia type I carrier FAH
  • Fanconi anemia group C carrier FANCC
  • Glycogen storage disease type Ia carrier G6PC1
  • G6PD deficiency G6PD
  • Pompe disease carrier GAA
  • Krabbe disease carrier GALC
  • Galactosemia carrier GALT
  • Gaucher disease carrier GBA1
  • Non-syndromic hearing loss carrier (DFNB1) GJB2
  • Lethal congenital contracture syndrome 1 (LCCS1) carrier GLE1
  • Sickle cell & β-thalassemia carrier HBB
  • Tay-Sachs disease carrier HEXA
  • Hydrolethalus syndrome (HLS) carrier HYLS1
  • Mucopolysaccharidosis type I carrier IDUA
  • Cornea plana 2 (CNA2) carrier KERA
  • Congenital lactase deficiency carrier LCT
  • Mucolipidosis IV carrier MCOLN1
  • Meckel syndrome, Finnish type (MKS1) carrier MKS1
  • Congenital nephrosis, Finnish type (CNF) carrier NPHS1
  • Gyrate atrophy of the choroid and retina carrier OAT
  • Phenylketonuria (PKU) carrier PAH
  • Muscle-eye-brain disease (MEB) carrier POMGNT1
  • Infantile neuronal ceroid lipofuscinosis (CLN1) carrier PPT1
  • RAPADILINO syndrome carrier RECQL4
  • Cartilage-hair hypoplasia (CHH) carrier RMRP
  • Salla disease carrier SLC17A5
  • Diastrophic dysplasia (DTD) carrier SLC26A2
  • Congenital chloride diarrhea (CCD) carrier SLC26A3
  • Pendred syndrome / hearing-loss carrier SLC26A4
  • Lysinuric protein intolerance (LPI) carrier SLC7A7
  • Niemann-Pick disease type A/B carrier SMPD1
  • Mulibrey nanism carrier TRIM37
  • Infantile-onset spinocerebellar ataxia (IOSCA) carrier TWNK
  • Usher syndrome type 2A carrier USH2A
  • Cohen syndrome carrier VPS13B
  • PEHO syndrome carrier ZNHIT3

Pharmacogenomics

8 items examined

Restated from CPIC guidelines

How your genotype may affect specific medicines, restated from CPIC. On a chip, only the genes whose defining SNPs your array typed.

  • CYP2C19
  • CYP2C9
  • CYP4F2
  • DPYD
  • HLA-B
  • NUDT15
  • SLCO1B1
  • VKORC1

Single-gene reads

5 items examined

Restated from ClinVar · peer-reviewed literature

  • APOE Alzheimer's-risk ε-genotype (reveal-gated)
  • Lp(a) Lipoprotein(a) cardiovascular-risk level
  • HFE Hereditary haemochromatosis (iron overload)
  • ABO ABO blood group, not a blood test
  • APOL1 APOL1 kidney-risk variants

Traits

23 items examined

Restated from NHGRI-EBI GWAS Catalog

Benign, well-replicated traits that clear a strict evidence gate.

  • Alcohol flush response
  • Alcohol metabolism speed (ADH1B)
  • Asparagus urine smell detection
  • Bitter taste sensitivity (TAS2R38)
  • Caffeine metabolism
  • Chronotype (morning vs evening tendency)
  • Cilantro (coriander) soapy taste
  • Coffee consumption tendency (AHR)
  • Duffy blood-group antigen (malaria resistance & neutrophil baseline)
  • Earwax type & body odour
  • Eye colour (blue vs brown)
  • Freckling tendency (IRF4)
  • FUT2 secretor status (norovirus resistance, gut microbiome, B12)
  • Hair colour shade (KITLG)
  • Hair thickness & shape
  • Lactase persistence
  • Androgenetic hair thinning tendency (TWIST2)
  • Muscle fibre type (ACTN3)
  • Omega fatty acid desaturation (FADS1)
  • Photic sneeze reflex (ACHOO)
  • Red hair and fair skin tendency (MC1R)
  • Vitamin B12 tendency (FUT2)
  • Vitamin D tendency (GC / VDBP)

Polygenic risk scores

4 items examined

Restated from PGS Catalog

A tendency across many variants and a percentile against a reference group, never a personal probability of disease. Reveal-gated.

  • Atrial fibrillation
  • Breast cancer
  • Coronary artery disease
  • Type 2 diabetes

Deep ancestry

2 items examined

Restated from PhyloTree

One thread of your tree per line, as global haplogroups, never a “percent ancestry” pie.

  • Maternal line, mtDNA haplogroup 11 clade families
  • Paternal line, Y-DNA haplogroup 14 clade families

Frontier

38 items examined

Restated from GWAS Catalog · emerging research

Exploratory; each reading labelled by how much evidence really backs it. Walled off from the clinical report, for curiosity, never medical.

  • Endurance vs power: the ACE 'sport gene'
  • ACTN3: fast-twitch 'sports gene' (sprint/power vs endurance)
  • ADORA2A: caffeine sensitivity & sleep
  • Alcohol flush: acetaldehyde clearance (ALDH2)
  • Alcohol metabolism speed (ADH1B)
  • BDNF: Val66Met, learning & neuroplasticity
  • Beta-carotene converter status (BCO1)
  • Risk-taking & processing speed (CADM2)
  • Caffeine metabolism: fast or slow (CYP1A2)
  • CCR5Δ32: the HIV-resistance deletion (read via a proxy SNP)
  • CLOCK: chronotype (morningness / eveningness)
  • Tendon stiffness & flexibility (COL5A1)
  • COMT: dopamine clearance ('warrior / worrier')
  • DRD2 / ANKK1: Taq1A, dopamine reward signalling
  • Novelty-seeking, the contested version (DRD4)
  • Anandamide tone (FAAH)
  • Omega-3/6 conversion efficiency (FADS1)
  • Stress-axis regulation, contested (FKBP5)
  • FTO: appetite & body-weight set-point
  • IGF2BP2: a lead type 2 diabetes marker
  • HDL & longevity curio (CETP I405V)
  • Longevity-associated FOXO3 variant
  • Klotho KL-VS: heterozygote-advantage curio
  • The 'warrior gene' myth (MAOA)
  • KIBRA memory-performance variant (WWC1)
  • MTHFR: C677T, the most over-hyped variant in consumer genetics
  • Glucose & melatonin crossover (MTNR1B)
  • Nicotine dependence signal (CHRNA5)
  • Mu-opioid receptor variant (OPRM1 A118G)
  • OXTR: rs53576, the oxytocin receptor & social behaviour
  • PPARGC1A: Gly482Ser, endurance & mitochondria
  • Secretor status: norovirus and B12 (FUT2)
  • Natural short sleeper: ADRB1
  • Natural short sleeper: DEC2 (BHLHE41)
  • Serotonin transporter (5-HTTLPR): the famous null
  • Glucose handling: the strongest common T2D variant (TCF7L2)
  • Vitamin-D tendency: activation enzyme (CYP2R1)
  • Vitamin-D tendency: binding protein (GC)

The Fringe

22 items examined

Restated from GWAS · speculative

The popular, playful gene-quirks, the deepest end of the firewall. For fun only.

  • Asparagus pee: can you smell it? (OR2M7 cluster)
  • Bitter taste: PTC taster or not (TAS2R38)
  • Blond vs darker hair (KITLG)
  • Cilantro tastes like soap (OR6A2)
  • Straight vs curly hair (TCHH)
  • Wet or dry earwax (ABCC11)
  • Blue or brown eyes (HERC2)
  • Can you taste fat? (CD36)
  • Freckles & premature greying (IRF4)
  • Rage at chewing sounds: misophonia (TENM2)
  • Motion sickness (carsick / seasick tendency)
  • Sun sneeze: the ACHOO reflex (near ZEB2)
  • Red hair & freckling (MC1R R151C)
  • Chili-heat sensitivity (TRPV1)
  • How sweet is sweet? Sucrose sensitivity (TAS1R3)
  • Sweet tooth (FGF21 'sugar hormone')
  • Tan vs burn: skin pigment (SLC45A2)
  • Tongue taste-bud density: gustin (CA6)
  • Hair thickness and shovel-shaped teeth (EDAR)
  • Umami (savory) taste sensitivity (TAS1R1)
  • Eyebrow convergence: the 'unibrow' nudge (PAX3)
  • Can you smell violets? Beta-ionone (OR5A1)

Deep Read: 29-gene pharmacogenomic panel Deep Read add-on

29 items examined

Restated from CPIC · PyPGx (from your aligned reads)

Resolved from aligned reads (BAM/CRAM), including CYP2D6 star-alleles a variant file can't call, with a measured per-gene callability map.

  • ABCB1
  • ABCG2
  • ALDH2
  • BCHE
  • CACNA1S
  • CYP1A2
  • CYP2B6
  • CYP2C19
  • CYP2C8
  • CYP2C9
  • CYP2C_rs12777823
  • CYP2D6
  • CYP3A4
  • CYP3A5
  • CYP4F2
  • DPYD
  • F2
  • F5
  • G6PD
  • GRIK4
  • IFNL3
  • MTHFR
  • NAT2
  • NFIB
  • NUDT15
  • SLCO1B1
  • TPMT
  • UGT1A1
  • VKORC1

See what your own file unlocks →