28 件 ・ 関連度順
概要と使いどころ
Fetch compact TPMI PheWAS summaries for single variants by accepting rsID, GRCh37, or GRCh38 input and resolving to the required GRCh38 query. Use when a user wants concise TPMI association results for one variant
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Fetch compact UKB-TOPMed PheWAS summaries for single variants by accepting rsID, GRCh37, or GRCh38 input and resolving to the required GRCh38 query. Use when a user wants concise UKB-TOPMed association results for one variant
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Fetch compact BioBank Japan PheWAS summaries for single variants by accepting rsID, GRCh38, or GRCh37 input and resolving to the required GRCh37 query. Use when a user wants concise BBJ association results for one variant
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Fetch GTEx single-tissue eQTL associations from one variant input by accepting rsID, GRCh37, or GRCh38 input and resolving to the required GRCh38 query for the GTEx v2 API. Use when a user wants eQTL associations returned as JSON.
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Fetch compact FinnGen PheWAS summaries for single variants by accepting rsID, GRCh37, or GRCh38 input and resolving to the required GRCh38 query. Use when a user wants concise FinnGen association results for one variant
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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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Converts genomic intervals between coordinate conventions, normalises and compares variant representations, and detects assembly or contig-naming mismatches before they corrupt an analysis. Used whenever coordinates cross a format, tool, or assembly boundary - converting between BED, GFF/GTF, VCF, SAM/BAM, WIG, PSL, genePred, Picard interval_list, or region strings; reconciling 0-based half-open with 1-based inclusive; left-aligning or trimming indels; checking whether two variant records describe the same change; mapping genomic to transcript, CDS, or protein positions; auditing a BED/GTF/VCF for convention violations; or diagnosing GRCh37 vs hg19 vs GRCh38 vs T2T, chr-prefix, and liftover problems. Triggers include "off by one", "0-based", "1-based", "half-open", "coordinate system", "left-align", "normalize variant", "bcftools norm", "chr prefix", "wrong genome build", "liftover", "REF mismatch", and "HGVS".
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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).
日本語の概要は準備中です。原文の説明を表示しています。
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).
日本語の概要は準備中です。原文の説明を表示しています。
Queries the 1000 Genomes Project dataset (3,202 whole-genome-sequenced individuals, GRCh38) at the level of individual participants. Use when a question is about individuals or variants in the 1000 Genomes Project cohort: which individuals carry variants matching specific criteria in a gene or region, which individuals are homozygous-reference at a position, which variants exist in the dataset or carried by specified individuals in a gene or region, the relatedness between two specified individuals. Variants are returned with 1000 Genomes allele frequencies (AF), gnomAD v4.1 exome and genome AF, AlphaMissense score, and HGVSp annotations.
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Retrieves ClinGen gene-disease validity assertions for a public gene or disease, and reviews source-linked public evidence and literature for one supported GRCh38 germline nuclear SNV or simple indel through Folklore Clinical Variant Interpretation MCP. Used when a scientific agent must branch deterministically on resolved, ambiguous, not-found, invalid, unsupported, or unavailable variant outcomes; chain a resolved public variant into related literature or publication details; or preserve evidence provenance without accepting patient, phenotype, family, segregation, or private case data.
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Looks up precomputed AlphaGenome Atlas effects for any GRCh38 single-nucleotide variant (AVI score with Phred and 18 SHAP feature attributions, plus raw and quantile scores for RNA-seq, DNase, ATAC, ChIP-TF, ChIP-histone, CAGE, PRO-cap, splicing, polyadenylation and contact-map tracks), scores variants or scans windows on demand with the AlphaGenome model for human and mouse (variant scoring, in silico mutagenesis, REF-versus-ALT track prediction), and builds Atlas website deep links. Use when the user mentions AlphaGenome, AlphaGenome Atlas, AVI or AlphaGenome Variant Impact, DeepMind variant effect prediction, or wants to prioritise or mechanistically interpret non-coding, regulatory, splicing, enhancer, promoter, or chromatin-accessibility effects of SNVs from a VCF, credible set, or region. Research use only; not a clinical tool.
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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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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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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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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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Analyze compliance operations for regulatory change tracking, control mapping, policy management, audit readiness, and training compliance. Triggers: 'audit compliance program', 'assess GRC platform', 'review regulatory change management', 'check control framework'.
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Automates SOC 2 Type II audit preparation including gap assessment against AICPA Trust Services Criteria (CC1-CC9), evidence collection from cloud providers and identity systems, control testing validation, remediation tracking, and continuous compliance monitoring. Covers all five TSC categories (Security, Availability, Processing Integrity, Confidentiality, Privacy) with automated evidence gathering from AWS, Azure, GCP, Okta, GitHub, and Jira. Use when preparing for or maintaining SOC 2 Ty...
日本語の概要は準備中です。原文の説明を表示しています。