The latest research to explore

Direct Genome Prompt

Using my .genome bundle, check CCDC201 rs117316434 at GRCh38 chr7:45863165 G>A (p.Arg162Ter/R162*). Report the observed genotype, A-allele count, zygosity, quality and available HGVS annotation. If the variant is absent, distinguish a confidently callable homozygous-reference result from an unresolved result; do not infer zero copies without callability evidence. Explain that the study-associated genotype was A/A and do not substitute other CCDC201 variants.

Direct Genome Prompt

Using my .genome bundle, review clinical_findings.parquet and clinically annotated variant rows for observed findings marked actionable or Pathogenic/Likely Pathogenic. Explicitly check HFE rs1800562 and TTR rs76992529. Report gene, rsID or coordinate, genotype, zygosity, available HGVS, ClinVar significance and review stars. Do not claim this is a complete ACMG secondary-findings screen unless the bundle identifies the exact gene-list version and adequate callability, and do not present VUS findings as actionable.

Direct Genome Prompt

Using my .genome bundle, review pharmacogenomics.parquet and variant rows for DPYD rs3918290, rs55886062, rs67376798, rs56038477 and rs115232898, plus UGT1A1 rs8175347 if it is represented. Report the stored diplotype or phenotype and each observed target genotype, zygosity and callability limitation. Treat a missing repeat or target as unresolved unless the bundle explicitly calls it. Do not recommend a chemotherapy dose; identify results that warrant oncology pharmacogenomic review.

Direct Genome Prompt

Using my .genome bundle, check the APOE-region deletion rs148353395 and use rs429358 and rs7412 to report my supported APOE ε2/ε3/ε4 diplotype or the compatible possibilities when phase is ambiguous. Report whether rs148353395 is observed and any available genotype or copy evidence. Do not use a proxy SNP, infer local ancestry, or claim the deletion is on the same chromosome as ε4 unless the bundle contains explicit phasing evidence.

Direct Genome Prompt

Using my .genome bundle, check CD36 rs3211938 and report the observed genotype, G-allele count, zygosity, quality and protein consequence. If it is absent, distinguish callable homozygous reference from unresolved. Explain that the strongest reported dilated-cardiomyopathy association was in G/G participants from the studied ancestry group; do not infer my ancestry from this variant or generalise the result to other CD36 variants.

Direct Genome Prompt

Using my .genome bundle, check rs17834140 near MSI2. Report the observed genotype, T-allele count, zygosity, genome-build coordinate, quality and any stored trait association. If it is absent, distinguish callable homozygous reference from unresolved. Summarize the annotated direction for MSI2 expression and clonal-haematopoiesis risk only when supported by the bundle or cited research; do not substitute other MSI2 variants.

Direct Genome Prompt

Using my .genome bundle, search observed variants and clinical findings in ZNF518A, BRCA2, CHEK2 and HELB. Report high-confidence stop-gain, frameshift or essential splice variants, plus variants already classified Pathogenic/Likely Pathogenic, with rsID or coordinate, genotype, zygosity, HGVS, consequence, frequency and ClinVar evidence. Separate ovarian-ageing research context from established cancer-risk interpretation. Do not treat ordinary missense variants or VUS as positive findings, and state that a negative result is limited by bundle callability and variant types represented.

Direct Genome Prompt

Using my .genome bundle, search observed BSN variants for rare high-confidence stop-gain, frameshift or essential splice donor/acceptor consequences. Report rsID or coordinate, genotype, zygosity, available HGVS, transcript or consequence, quality and population frequency. Do not count benign missense variants or VUS as matches. If none are found, report that no qualifying observed variant was retrieved and describe the relevant callability and structural-variant limitations rather than claiming the gene is clear.

Direct Genome Prompt

Using my .genome bundle, search GDF15 for p.Cys211Gly/C211G and check rs1054221. Report each retrieved genotype, zygosity, quality, available HGVS and any stored annotation related to circulating GDF15. If a target is absent, distinguish callable reference from unresolved when possible. Do not add remembered study variants or infer pregnancy-nausea sensitivity from unrelated GDF15 variants.

Direct Genome Prompt

Using my .genome bundle, check whether prs.parquet already contains a score for severe pregnancy nausea or hyperemesis gravidarum. If present, report the stored score, percentile, training source, date and contributing variants. Also summarize retrieved GWAS or variant annotations for GDF15, GFRAL, IGFBP7, PGR, PGRMC1 and TCF7L2. If no matching stored score exists, say that this analysis is unavailable in my current bundle; do not calculate a new score from gene names or model knowledge.

Direct Genome Prompt

Using my .genome bundle, search observed variants and annotations in PRRT2, SCN11A, KCNK5, PALMD, ABO and LRRK2 that are explicitly connected to migraine. Prioritize rare frameshift, stop-gain and essential splice variants in PRRT2 or SCN11A and report rsID or coordinate, genotype, zygosity, HGVS, consequence, frequency and the stored migraine subtype direction. Do not invent a study target list or infer a result from a gene name alone; if the necessary annotations are absent, state that the bundle cannot reproduce the study-specific analysis.

Direct Genome Prompt

Using my .genome bundle, review observed variants and clinical findings in TTN, MYBPC3, FLNC and BAG3 for Pathogenic/Likely Pathogenic classifications and high-confidence truncating consequences. Report genotype, zygosity, HGVS, consequence and evidence. Separately report a heart-failure score only if one is already present in prs.parquet, including its stored percentile and provenance. Do not calculate a new score, and do not claim exon-level deletions, duplications or complete gene clearance unless the bundle explicitly represents and calls them.

Direct Genome Prompt

Using my .genome bundle, check FN1 rs140926439 and use APOE rs429358 and rs7412 to report my supported ε2/ε3/ε4 diplotype or compatible possibilities when phase is ambiguous. Report FN1 genotype, zygosity, quality and callability status, then explain whether the study context applies to an APOE ε4 carrier. Do not substitute other FN1 variants or describe this as general Alzheimer’s protection.

Direct Genome Prompt

Using my .genome bundle, search SMIM1 variant rows for the exact exon-3 deletion c.64_80del and report any observed genotype, zygosity, HGVS, coordinate and quality. If the deletion is not explicitly represented, report the result as unresolved rather than absent because general structural-variant detection may not be included. Do not use a nearby SNP proxy or infer Vel-negative blood type without a direct, adequately called deletion result.

Direct Genome Prompt

Using my .genome bundle, check whether prs.parquet contains a hypothyroidism score and report its stored value, percentile, provenance and contributing variants if present. Also search observed TYK2, ZAP70 and IFIH1 variants for rare high-impact or clinically classified findings, reporting genotype, zygosity, HGVS, consequence and frequency. If no hypothyroidism score is stored, do not construct one from remembered loci or gene names.

Direct Genome Prompt

Using my .genome bundle, check whether prs.parquet contains a score specifically for baseline PSA and report its stored value, percentile, provenance and contributing variants if present. Summarize retrieved PSA-related GWAS or variant annotations at KLK3, MSMB, NKX3-1 and HOXB13. If no baseline-PSA score is stored, do not calculate one or substitute a prostate-cancer score. Do not reinterpret a measured PSA without its value, age and clinical context.

Direct Genome Prompt

Using my .genome bundle, check ABCG2 rs2231142 and the stored ABCG2 pharmacogenomic result, reporting genotype, zygosity, transporter phenotype and relevant medicines. Also search observed MOCOS variants for rare high-impact consequences and report rsID or coordinate, HGVS, zygosity and frequency. Do not claim that a MOCOS variant met a particular study burden test unless that criterion is present in the bundle, and do not recommend changing allopurinol without clinical review.

Direct Genome Prompt

Using my .genome bundle, report the stored CYP2C19 diplotype and metaboliser phenotype from pharmacogenomics.parquet and show available evidence for rs4244285, rs4986893 and rs12248560. List antidepressants connected to the stored pharmacogenomic result and keep metabolism guidance separate from side-effect prediction. Report a side-effect score only if that exact trait already exists in prs.parquet; otherwise state that no such score is available and do not construct one.

Direct Genome Prompt

Using my .genome bundle, report the stored SLCO1B1 pharmacogenomic diplotype and transporter phenotype, then check rs4149056 and report its genotype, zygosity and quality. Infer *5 or *15 only if the bundle explicitly provides the required alleles and phase; otherwise keep the result at the rs4149056 or stored-diplotype level. Identify only medicines listed in the bundle or established guidance, and do not generalise the result to every statin.

Direct Genome Prompt

Using my .genome bundle, check rs9643050, GPC2 GRCh38 chr7:100171569 G>A and STAG3 chr7:100204708 C>T. Also search observed variants in AKR1D1, AKR1C3, HSD11B1, HSD17B2, TRIM4 and CYP3A43 for rare high-impact or fertility-annotated findings. Report exact retrieved genotypes, zygosity, quality, HGVS and stored trait annotations. If no fertility score exists in prs.parquet, do not create one or claim that the bundle reproduces the study’s 25-locus analysis.

Direct Genome Prompt

Using my .genome bundle, check whether prs.parquet contains a score for endometriosis or adenomyosis and report each stored result separately with percentile, provenance and contributing variants. Summarize retrieved trait-linked variants or GWAS annotations at WNT4, GREB1, ESR1, VEZT, CDKN2B-AS1 and KDR. If the relevant score is not already stored, do not calculate one from these genes or imply that a complete 80-locus analysis was performed.

Direct Genome Prompt

Using my .genome bundle, check rs13141656 near HAND2 and report genotype, zygosity, quality, effect allele and any stored postpartum-haemorrhage association. Search PHACTR2, ZEB1, TBX3 and RAP2C/FRMD7 only for variant or GWAS rows explicitly annotated to heavy bleeding after childbirth. Do not infer lead variants from locus names or claim that all five study signals were tested when their exact identifiers are absent.

Direct Genome Prompt

Using my .genome bundle, check whether prs.parquet contains a restless-legs-syndrome score and report its stored value, percentile, provenance and contributing variants. Summarize retrieved restless-legs GWAS or variant annotations at MEIS1, BTBD9, PTPRD, MAP2K5/SKOR1 and TOX3. If no matching stored score exists, state that the bundle cannot provide the study-specific profile and do not calculate one from a subset or model knowledge.

Direct Genome Prompt

Using my .genome bundle, check whether prs.parquet contains a score for menopausal hot flashes and report its stored value, percentile, provenance and contributing variants. Summarize only retrieved hot-flash-related variants or GWAS annotations in the TACR3 region. If no matching score or annotated variants are present, say that this exploration is unavailable in the current bundle; do not infer a genotype from the gene name or construct a score from outside knowledge.

Direct Genome Prompt

Using my .genome bundle, check PLCG2 rs72824905-G (p.Pro522Arg/P522R). Report the observed genotype, G-allele count, zygosity, quality, coordinate and available HGVS annotation. If it is absent, distinguish callable homozygous reference from unresolved. Summarize the Alzheimer’s-risk direction only from a stored annotation or the cited research context, and do not substitute other PLCG2 variants.

Direct Genome Prompt

Using my .genome bundle, review observed PRKN variants and clinical findings for Pathogenic/Likely Pathogenic classifications or high-confidence loss-of-function consequences. Report rsID or coordinate, genotype, zygosity, HGVS, consequence, quality and ClinVar evidence. Report exon-level deletions or duplications only if they are explicitly represented in the bundle, and report two variants as in trans only with explicit phase evidence. Do not treat one VUS as PRKN-associated Parkinson’s disease, and describe the limits of a negative result.

Direct Genome Prompt

Using my .genome bundle, check whether prs.parquet contains a chronic-back-pain score and report its stored value, percentile, provenance and contributing variants. Summarize retrieved back-pain GWAS or variant annotations at SOX5, CCDC26/GSDMC, DCC and SPOCK2. If no matching stored score exists, do not generate a polygenic result from these loci or claim the study was reproduced.

Direct Genome Prompt

Using my .genome bundle, search FRS3 for p.Glu115Lys, rs146730626 and rs35744673 and report each retrieved genotype, zygosity, HGVS, quality, frequency and stored BMI direction. Search for an MC4R-region deletion only if an explicit structural or copy-number call is represented in the bundle. Do not guess unnamed FRS3 variants or deletion breakpoints, and treat an unrepresented large deletion as unresolved rather than absent.

Direct Genome Prompt

Using my .genome bundle, check whether prs.parquet contains a puberty-timing score and report its stored value, percentile, provenance and contributing variants. Search observed variants in MKRN3, DLK1, KISS1, KISS1R, TAC3, TACR3, GNRH1, GNRHR, MC3R and LEPR for rare high-impact or clinically classified findings, reporting genotype, zygosity, HGVS and evidence. Do not calculate a new score or predict an exact age of puberty.

Direct Genome Prompt

Using my .genome bundle, check ADARB2 rs7904615-G. Report the observed genotype, G-allele count, zygosity, quality, genome-build coordinate and any stored headache association. If the variant is absent, distinguish callable homozygous reference from unresolved. Do not substitute nearby ADARB2 variants or turn this exploratory association into a clinical prediction.

Direct Genome Prompt

Using my .genome bundle, check prs.parquet and GWAS annotations separately for rhythm, language-related traits and dyslexia. Report only stored scores with their percentiles, provenance and contributing variants, keeping the three traits separate. If these exact scores are not present, state that the current bundle cannot provide them. Do not infer musical or language ability, or dyslexia risk, from candidate genes or a general educational-attainment score.

Direct Genome Prompt

Using my .genome bundle, check prs.parquet and GWAS annotations for male infertility, spermatogenic failure or Sertoli cell-only syndrome. Report only exact retrieved variants or stored scores with genotype, effect allele, percentile and provenance. If the study-specific signals are not present, say that the bundle cannot reproduce the analysis. Do not infer variants from HLA or immune-gene names, infer my ancestry, or substitute a generic fertility score.

Direct Genome Prompt

Using my .genome bundle, check prs.parquet for stored habitual short-sleep and long-sleep scores. Report each available score separately with percentile, provenance and contributing variants, and summarize matching sleep-related GWAS annotations. Keep these results separate from rare monogenic sleep variants. If either score is absent, say it is unavailable; do not calculate it or estimate my required sleep duration from model knowledge.

Direct Genome Prompt

Using my .genome bundle, check prs.parquet and GWAS annotations for stuttering. Report only stored scores or exact annotated variants with genotype, percentile, provenance and the population context recorded in the bundle. Do not infer my sex or ancestry from genetic loci, and do not construct a stuttering score from language, anxiety or educational-attainment variants when a specific stored score is absent.

Direct Genome Prompt

Using my .genome bundle, search variant and GWAS rows in the B3GALT5 and ST6GAL1 regions that are explicitly annotated to severe influenza. Report exact rsID or coordinate, genotype, zygosity, effect allele, quality and the study population recorded in the annotation. If no exact influenza-linked rows are present, state that the bundle cannot test these signals. Do not infer a result from gene names, infer my ancestry, or substitute COVID-19 variants.

Direct Genome Prompt

Using my .genome bundle, search observed CHRNB3 variants for p.Glu284Gly and rare high-confidence stop-gain, frameshift or essential splice-site consequences. Report rsID or coordinate, genotype, zygosity, HGVS, quality, population frequency and any stored smoking-behaviour association. Do not include ordinary missense variants other than p.Glu284Gly, and state the callability limits if no qualifying variant is retrieved.

Direct Genome Prompt

Using my .genome bundle, search GWAS and variant annotations at WNT4, PAX8, WT1, SALL1, FSHB, GREB1, BMPR1B, SYNE1/ESR1 and CHEK2 for explicit links to reproductive or women’s health conditions. Report exact retrieved variants and the traits attached to each in the bundle. Group only conditions connected by the same stored variant or annotation. Do not recreate a 42-condition atlas or infer cross-condition links from gene names alone.

Direct Genome Prompt

Using my .genome bundle, check rs12660421 near FOXP4. Report the observed genotype, effect-allele count, zygosity, quality, coordinate and any stored long-COVID association. If it is absent, distinguish callable homozygous reference from unresolved. Report the study population from the annotation if available, but do not infer my ancestry or substitute other FOXP4 or COVID-19 variants.

Direct Genome Prompt

Using my .genome bundle, search HIF1A variant and GWAS rows explicitly annotated to multiple-sclerosis progression, disability accumulation or chronic inflammation. Report exact rsID or coordinate, genotype, zygosity, effect allele, quality and stored direction of association. If no exact HIF1A row with this trait annotation is present, state that the current bundle cannot test the research finding; do not choose another HIF1A variant from memory.

Direct Genome Prompt

Using my .genome bundle, search PTPRT for p.Arg1384His and POMC for p.Glu206Ter/p.Glu206*. Report any exact matches with coordinate, genotype, zygosity, quality, available HGVS, frequency and stored BMI direction. If a target is not retrieved, report it as not found in the available bundle evidence and describe callability limits. Do not substitute other PTPRT or POMC variants.

Direct Genome Prompt

Using my .genome bundle, search TCL1B-region variant and GWAS rows explicitly annotated to clonal haematopoiesis or age-related blood-cell changes. Report exact retrieved variants, genotype, zygosity, effect allele and the population context stored with the association. Do not infer my ancestry, invent variant-by-driver interactions, or report whether I currently have a somatic blood-cell clone; if the required annotations are absent, say the bundle cannot perform this analysis.

Direct Genome Prompt

Using my .genome bundle, search observed GDF15 variants for rare high-confidence stop-gain, frameshift or essential splice donor/acceptor consequences. Report coordinate or rsID, genotype, zygosity, quality, available HGVS, transcript or consequence and population frequency. Call a potential two-allele loss only for a homozygous qualifying variant or two qualifying variants with explicit phase evidence; otherwise report that biallelic status is unresolved. Do not count missense variants or VUS as knockout alleles.

Direct Genome Prompt

Using my .genome bundle, check prs.parquet for stored scores for leisure exercise, occupational activity and household movement. Report each available trait separately with score, percentile, provenance and contributing variants, and summarize matching GWAS annotations. If a specific score is absent, say it is unavailable and do not calculate it. Do not collapse the traits into a generic motivation or exercise-gene result.

Direct Genome Prompt

Using my .genome bundle, check prs.parquet for stored REM, non-REM and total-sleep scores and report each available phenotype separately with score, percentile, provenance and contributing variants. Summarize matching sleep-stage GWAS annotations already present in the bundle. If these exact stored scores are absent, state that sleep-stage architecture cannot be assessed from this bundle; do not calculate it from candidate genes or wearable assumptions.

Direct Genome Prompt

Using my .genome bundle, search RELN for the exact p.His3447Arg/H3447R variant. Report any exact match with coordinate, genotype, zygosity, quality and available HGVS. If it is not retrieved, report the result as not found in the available bundle evidence and describe callability limits; do not substitute another RELN variant. Keep any Alzheimer’s interpretation limited to the reported exceptional-family context.

Direct Genome Prompt

Using my .genome bundle, search variant and GWAS rows at DYSF–ZNF638 and DNM3–PIGC that are explicitly annotated to multiple-sclerosis severity or disability progression. Report exact rsID or coordinate, genotype, zygosity, effect allele, quality and stored direction. If no exact severity-linked rows are present, state that the bundle cannot test these findings. Do not substitute MS-susceptibility variants or infer results from locus names.

Direct Genome Prompt

Using my .genome bundle, search RGL3 variant rows and any explicitly represented structural or copy-number calls for a partial exon-6 deletion. Report only a direct matching deletion with its coordinates, genotype or copy state and available quality evidence. If the bundle has no structural-variant representation or matching breakpoint, report this result as unresolved rather than absent. Do not use a nearby SNP proxy or a different RGL3 deletion.

Direct Genome Prompt

Using my .genome bundle, check NR3C1 rs6190. Report the observed genotype, zygosity, quality, genome-build coordinate and any stored annotation related to glucocorticoid-receptor signalling or muscle metabolism. If it is absent, distinguish callable homozygous reference from unresolved. Do not substitute other NR3C1 variants or turn a mechanistic association into exercise or steroid-treatment advice.

Direct Genome Prompt

Using my .genome bundle, search CSF2RB for the exact p.Ala455Asp/A455D variant. Report any exact match with coordinate, genotype, zygosity, quality and available HGVS. If it is not retrieved, report the result as not found in the available bundle evidence and describe callability limits; do not substitute another CSF2RB variant. Label the Alzheimer-related interpretation as experimental, not validated human protection.

Direct Genome Prompt

Using my .genome bundle, search observed SLC13A1 variants for rare high-confidence stop-gain, frameshift, essential splice or clinically classified damaging findings. Report rsID or coordinate, genotype, zygosity, quality, available HGVS, transcript or consequence and population frequency. State which bundle evidence made each finding qualify; do not claim a paper-specific burden-test criterion unless it is stored. Do not count common variants, benign missense variants or VUS as positive matches, and describe negative-result limitations.