31건 · 관련도순
Retrieve concise FinnGen association results for one genetic variant. Accepts rsID identifiers or GRCh37/GRCh38 genome coordinates, resolves the query format, and reports association counts, truncation, and optional raw output files.
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Look up one genetic variant in UKB-TOPMed and summarize its associations with traits. Accept rsID identifiers or GRCh37 and GRCh38 coordinates, resolve the required query format, and report association totals and any result truncation.
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Look up TPMI associations for a single genetic variant using an rsID or genome coordinates. Get a concise summary showing the queried variant, the total number of associations, and whether the displayed results are incomplete.
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Retrieve GTEx associations between a genetic variant and gene expression in individual tissues. Supply one rsID or genome coordinate, and receive JSON with the resolved variant, association rows, counts, and warnings.
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Look up one genetic variant in BioBank Japan and get a concise summary of its associations with diseases and traits. Accepts rsIDs or genome coordinates, converts the query as needed, and can save complete results.
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Search the 1000 Genomes Project’s 3,202 participants for genetic variants and their carriers. Filter by frequency or annotations, inspect variants in selected individuals, and check relatedness between two participants.
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Convert genomic positions between file conventions, standardize variant representations, and check reference genome or chromosome naming conflicts. The skill helps investigate one-base shifts and compare individual variants against a reference sequence before combining analysis files.
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Validates compliance, security, and GRC terminology in marketing copy. Enforces accurate claims, prevents common mistakes (e.g., calling SOC 2 a "certification"), and applies risk-first narrative framing for B2B SaaS audiences. Use when writing or reviewing any marketing content that references compliance frameworks, security standards, regulatory requirements, or audit processes. Also use when creating ads, landing pages, emails, case studies, or sales collateral for GRC/cybersecurity B2B SaaS products.
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Investigate how DNA variants may affect gene activity using precomputed AlphaGenome Atlas results and model predictions. Rank candidate variants, examine tissue-specific effects, and inspect the features behind scores to develop research hypotheses about biological mechanisms.
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Retrieve public evidence and linked publications for a supported genetic variant, or look up gene–disease relationships. Preserve sources, conflicting assertions, and explicit search outcomes so qualified professionals can review the findings.
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Queries gnomAD v4 (807k samples), v3, v2.1.1, and constraint metrics with grpmax FAF95, bottleneck-group exclusion, LOEUF interpretation, SV/CNV/mtDNA catalogs, and Whiffin max-credible-AF framework. Use when filtering rare variants, applying ACMG BS1/BA1, ranking genes by LoF intolerance, or selecting between v2 (GRCh37 + chrX/Y constraint) and v4 (GRCh38 + 807k samples).
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Governance, risk, and compliance — risk assessment and scoring, control mapping across NIST CSF 2.0 / ISO 27001:2022 / SOC 2 / CIS Controls v8, gap analysis, audit evidence preparation, and security policy generation
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Query the Ensembl REST API for regulatory feature annotations, variant effect prediction (VEP), coordinate liftover, gene lookups, and cross-references. Use when the user needs to annotate variants with VEP (consequence, CADD, REVEL, SpliceAI), check Ensembl Regulatory Build overlap for ENCODE regions, convert coordinates between GRCh37 and GRCh38, resolve gene IDs (Ensembl ↔ symbol ↔ RefSeq), look up gene phenotype associations, or cross-reference ENCODE targets with Ensembl annotations. Also use when the user mentions Ensembl, VEP, variant effect predictor, liftover, assembly conversion, regulatory build, gene lookup, or cross-references between databases.
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Convert genomic coordinates between assembly versions (GRCh37/hg19 to GRCh38/hg38, mm9 to mm10). Guides UCSC liftOver for BED files, CrossMap for VCF/bigWig, and handles unmapped regions with provenance logging.
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Queries gnomAD v4 (807k samples), v3, v2.1.1, and constraint metrics with grpmax FAF95, bottleneck-group exclusion, LOEUF interpretation, SV/CNV/mtDNA catalogs, and Whiffin max-credible-AF framework. Use when filtering rare variants, applying ACMG BS1/BA1, ranking genes by LoF intolerance, or selecting between v2 (GRCh37 + chrX/Y constraint) and v4 (GRCh38 + 807k samples).
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Queries gnomAD v4 (807k samples), v3, v2.1.1, and constraint metrics with grpmax FAF95, bottleneck-group exclusion, LOEUF interpretation, SV/CNV/mtDNA catalogs, and Whiffin max-credible-AF framework. Use when filtering rare variants, applying ACMG BS1/BA1, ranking genes by LoF intolerance, or selecting between v2 (GRCh37 + chrX/Y constraint) and v4 (GRCh38 + 807k samples).
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Queries gnomAD v4 (807k samples), v3, v2.1.1, and constraint metrics with grpmax FAF95, bottleneck-group exclusion, LOEUF interpretation, SV/CNV/mtDNA catalogs, and Whiffin max-credible-AF framework. Use when filtering rare variants, applying ACMG BS1/BA1, ranking genes by LoF intolerance, or selecting between v2 (GRCh37 + chrX/Y constraint) and v4 (GRCh38 + 807k samples).
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Coordinate compliance work across multiple standards and regulations. Use a company profile to identify relevant frameworks, map shared controls, prepare mock audits, and build a unified evidence checklist showing where documents can be reused.
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Use when you want to look up, map, and search for short genetic variants (SNPs, indels) in NCBI's dbSNP database. Resolves between rsIDs, genomic coordinates in VCF format, and HGVS strings. For an rsID, returns variant type, gene associations, clinical significance, allele frequencies, and genomic coordinates (GRCh38).
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United Arab Emirates Governance, Risk & Compliance advisor — a jurisdiction-first compliance router. In the UAE, WHERE an organization sits determines its law: mainland (Federal PDPL, Decree-Law 45/2021 — executive regulations still pending), DIFC (DP Law No. 5 of 2020 as amended 2025, with a private right of action), ADGM (DP Regulations 2021), CBUAE-licensed financial institutions (consumer-data residency, outsourcing approvals), healthcare (ICT Health Law data localization), and government/CNI (UAE IA Regulation, Cyber Security Council; Dubai ISR, ADHICS). Use for any UAE / Dubai / Abu Dhabi / Emirates compliance question: UAE data protection, DIFC or ADGM privacy, free-zone vs mainland obligations, health-data residency, CBUAE cyber and outsourcing rules, market entry ("expanding to the UAE"), breach notification, gap assessments, and mapping UAE requirements to ISO 27001 / NIST CSF / SOC 2. Trigger for any UAE privacy, cybersecurity, or regulatory question even if no framework is named.
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Saudi Arabia Governance, Risk & Compliance advisor — a compliance router that first determines WHICH Saudi regulations apply (NCA ECC-2:2024, Saudi PDPL, NCA Cloud Cybersecurity Controls, SAMA Cyber Security Framework, CST cloud framework, DCC/OTCC/TCC), then guides framework-specific compliance. Use for any Saudi Arabia / KSA compliance question: NCA Essential Cybersecurity Controls, SDAIA and the Personal Data Protection Law (نظام حماية البيانات الشخصية), PDPL breach notification and data transfers, SAMA compliance for banks/insurers/fintechs, cloud data residency in the Kingdom, CST CSP registration, government/CNI cybersecurity obligations, market-entry compliance ("expanding to Saudi Arabia"), gap assessments, and mapping Saudi requirements to ISO 27001 / NIST CSF / SOC 2. Trigger for any KSA, Riyadh, Vision 2030 compliance, NCA, SDAIA, SAMA, or Saudi data protection question even if no framework is named.
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Risk & Compliance (GRC) Super Intelligence Team. Named real-world personas across 7 cells. Built local-first (LM Studio) and validator-gated. Illustrative composites; see DISCLAIMER.md.
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Guides continuous privacy compliance monitoring implementation including automated control testing, evidence collection automation, real-time compliance dashboards, alert-based remediation workflows, regulatory change integration, and deviation management. Covers GRC platform configuration, control framework mapping, and compliance-as-code approaches. Keywords: continuous compliance, automated monitoring, evidence collection, dashboard, regulatory change, compliance-as-code.
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Think and work like an expert Bioinformatician. Use when a task calls for Bioinformatician judgment. Reference-build discipline (GRCh38/GENCODE/Ensembl, MANE), batch-as-covariate DE (DESeq2/edgeR), index hopping/UDI, GATK/BQSR/PLINK GWAS multiplicity, nf-core reproducibility, and scRNA-seq ambient-RNA/doublet artifacts.
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