Latest research and .genome prompts

Scan my .genome for predicted loss-of-function variants in PCSK9, APOC3, and other genes with known biomarker associations. For each, report zygosity, predicted consequence, population frequency, expected biomarker direction, and whether the evidence comes from human knockout data or older candidate-gene interpretation.

Determine my APOE diplotype from rs429358 and rs7412. Explain what epsilon 2, epsilon 3 and epsilon 4 mean for late-onset Alzheimer's risk context, and separately explain why APOE is checked in clinical conversations about anti-amyloid therapy side effects such as ARIA.

Inspect my .genome for reported endometriosis-associated variants or polygenic signal near HMGN1P19, SYN3 and ZHX3. Explain whether any signal is variant-level, locus-level or polygenic, and what biology it may point to.

First determine my APOE genotype from rs429358 and rs7412. Then scan my .genome for variants or burden signals near SORL1, ABCA7, PLCG2, CD33, PICALM and BIN1 from the 2026 ADRD meta-analysis. Separate established APOE interpretation from emerging GWAS loci.

From my .genome, list structural variants with type, coordinates, size and affected gene or regulatory region. Cross-reference them against the 2026 SV-GWAS catalog where possible, and prioritize SV-trait associations that were reported as unlikely to be explained by nearby SNPs.

In my .genome, check GLP1R rs10305420 and GIPR rs1800437 or nearby reported GLP-1 side-effect variants. Return my genotype, the reported direction of effect for weight loss or nausea/vomiting, and whether the signal applies to semaglutide or tirzepatide.

Check my genotypes for MEIS1 rs113851554, rs4544423 and rs182588061, plus KCNK9 rs888346. Explain the reported REM and NREM direction of effect for each variant and whether the finding relates to accelerometer-inferred sleep stages.

Scan my .genome for rare protein-truncating or high-impact missense variants in MARK2, YWHAG, PACS1, RERE, SPEN, GSE1, GLS, TNPO3, ANKRD17 and established ASD/NDD genes. Return variants with strong ClinVar/ClinGen or de novo-compatible evidence, including inheritance/zygosity if available.

Inspect my .genome for pathogenic or likely pathogenic variants in Lynch syndrome genes MLH1, MSH2, MSH6, PMS2 and EPCAM, APC-associated polyposis signals, and MUTYH variants including Y179C and G396D if covered. Separately summarize any colorectal cancer polygenic risk signal. For any notable finding, report the gene, variant, zygosity, evidence level and inherited-risk pathway it connects to.

Inspect my .genome for Raynaud's-associated polygenic signal and any reported loci connected to vascular tone, adrenergic/stress response or immune signaling. Explain whether the result is a broad PRS, a specific variant, or unsupported, and how the signal relates to primary versus secondary Raynaud's biology.

Using this anxiety GWAS, inspect my variants or polygenic signal near GABBR1, DRD2, CDH13, LRFN5, NCAM1, PAX6, PROX2, VAMP2 and HMGN1. Explain whether any signal is pathway-level, variant-level or unsupported, and how it maps to GABAergic signaling or threat-response circuitry.

Using the 2025 vitamin D gene-environment GWAS, inspect my .genome for variants near GC, CYP2R1, PDE3B, PSMA1, COPB1, CALCB, BMAL1/ARNTL and DHCR7, including GC rs115366859 if covered. Explain whether any signal relates to vitamin D transport, synthesis, metabolism, circadian biology or UVB interaction, and summarize the lab value, season, supplement use and sun exposure context that would help interpret it.

Using the Maxwell et al. 2025 acne GWAS, inspect my .genome for acne-associated variants or polygenic signal near RXRA, SOX9 and genes in WNT and p53 pathway annotations. Explain whether any signal is variant-level, locus-level or pathway-level, and how it relates to pilosebaceous-unit cell fate, RXRA signalling and retinoid biology.

Inspect my .genome for reported migraine subtype signals near CACNA1A, KLHDC8B, TRPM8, PHACTR1, STAT6, ACO2, BCAR1 and CCDC134. Separate migraine-with-aura biology from migraine-without-aura biology, and explain whether each signal points to neuronal excitability, neuroimmune, vascular or metabolic pathways.

Scan my .genome for clinically actionable pharmacogenetic alleles in NUDT15, TPMT, CYP2C19, ABCG2, CYP2C9, SLCO1B1 and relevant HLA genes. For each result, map it to the drug class discussed in the 2025 Taiwan Precision Medicine Initiative study, state whether it is an efficacy, adverse-event or dosing flag, and summarize the reported variant-drug mechanism.

Check my genotype at rs116058752 near ADCY2, plus rs669453, rs61902559 and nearby OR11H7-region variants if covered. Explain which reported smell-identification signals relate to orange or pineapple, whether the orange signal was female-specific, and what gene or locus biology is implicated.

Check my ALDH2 rs671 and ADH1B rs1229984 genotypes. Explain whether my result supports alcohol flush or slower acetaldehyde clearance, and summarize the Korean cohort links to alcohol intake, GGT/GOT/GPT, blood pressure, triglycerides and coffee intake.

Using the 2025 atopic dermatitis GWAS and keratinocyte assay paper, inspect my .genome for high-confidence FLG loss-of-function variants and risk signals near IL6ST, IL6, IL6R, SOCS3, IL22, IL22RA2 and RUNX3. Explain whether my findings point more toward skin-barrier biology, Th2/IL-6/IL-22 immune signaling or neither.

Inspect my .genome for PSA-associated variants from the 2025 GWAS, including KLK3 rs76151346, KLK3 rs145428838 and KLK2 rs182464120 if covered. Explain whether my genotype could shift baseline PSA upward or downward, and separate PSA calibration from prostate cancer risk.

Inspect my .genome for reported PTSD GWAS signals near GRIA1, GRM8, CACNA1E, FOXP2, EFNA5, DCC, PCLO, NCAM1, PDE4B, ESR1, TRAF3 or TANK. Explain the pathway themes: fear learning, synapses, calcium signaling, endocrine and immune biology.

Check my .genome for rare high-confidence protein-truncating variants in BSN and APBA1, plus the BSN-region common variant rs9843653 if present. Report whether I carry a qualifying rare variant, the adult-onset BMI/T2D/fatty-liver associations reported in the paper, and whether my common BMI polygenic background could modify interpretation.