「sso」の検索結果

Analyzes base-editing screens for variant function. Covers library design (Hanna 2021 ClinVar-scale CBE screen benchmarked on BRCA1/2, Cuella-Martin 2021 DDR saturation), CBE vs ABE chemistry choice (BE3/BE4 vs ABE7.10/ABE8.20/ABE8e), editing-window math (positions 4-8 from PAM-distal end; 4-7 for ABE7.10), bystander-edit quantification and the variant-call ambiguity it creates, sgRNA-efficiency filtering before hit calling, indel byproduct interpretation, the substitution-vs-indel diagnostic, variant annotation against ClinVar / COSMIC, and the Broad be-validation-pipeline. Use when designing a BE variant screen, choosing CBE vs ABE for a specific edit, interpreting bystander-confounded hits, distinguishing functional signal from indel artifact, integrating CRISPResso2 output with screen scoring, or deciding BE vs PE for SNV installation.

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Normalize read-depth copy-ratio profiles and segment them into copy-number regions using circular binary segmentation (CBS, DNAcopy), hidden Markov models, HaarSeg, and fused-lasso methods. Covers GC-content, mappability, and replication-timing (wave-artifact) bias correction, panel-of-normals/PCA denoising, diploid-baseline centering, and algorithm selection by sequencing depth and event size. Use when choosing a segmentation algorithm, correcting depth bias, diagnosing oversegmentation or a mis-centered baseline, tuning CBS or HMM parameters, or understanding why a downstream CNV caller produced fragmented or shifted segments.

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Tests associations between categorical variables in clinical data using chi-square, Fisher's exact, Boschloo, Cochran-Mantel-Haenszel, and modern McNemar variants with calibrated confidence intervals (Wilson, Newcombe, Miettinen-Nurminen). Use when analyzing categorical outcomes, paired binary endpoints, or testing treatment-outcome independence in confirmatory or exploratory clinical trials.

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Identifies super-enhancers from H3K27ac, MED1, or BRD4 ChIP-seq using ROSE, ROSE2, LILY, HOMER -style super, and ENCODE dELS cross-referencing. Handles peak stitching parameters, ranking choices, hockey-stick inflection, marker choice (H3K27ac vs MED1/BRD4), and cross-condition comparison with spike-in normalization. Constructs core regulatory circuitry (Saint-Andre 2016) from SE-encoded TFs. Use when identifying cell-identity / cancer-associated regulatory domains, comparing super-enhancers between conditions, identifying master transcription factor networks, or predicting BET-inhibitor responsiveness.

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Performs logistic regression for clinical trial outcomes (binary, ordinal, multinomial) with marginal-vs-conditional estimand reporting per FDA 2023 covariate adjustment guidance, g-computation/standardisation for marginal effects, modified Poisson for RR, Brant test for proportional odds, Firth penalty for separation, and Hauck-Donner detection. Use when modeling binary or ordinal endpoints in confirmatory or exploratory clinical trials.

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Maps GWAS-implicated loci to candidate effector (causal) genes by integrating variant-to-gene (V2G) features via Open Targets L2G (Mountjoy 2021), MAGMA gene-based association (de Leeuw 2015), FUMA SNP2GENE, cS2G combined SNP-to-gene scores (Gazal 2022), Polygenic Priority Scores (PoPS, Weeks 2023), FLAMES, INQUISIT, DEPICT, and enhancer-gene predictors (ABC, ENCODE-rE2G). Use when narrowing a GWAS lead locus to a candidate causal gene, picking between proximity, eQTL-based, and similarity-based prioritizers, integrating multi-evidence streams (fine-mapping, colocalization, ABC enhancer-gene, distance, chromatin), reconciling discordant L2G vs PoPS calls, prioritizing tissue-specific eQTL evidence, or triangulating across at least three independent lines of evidence for a publication-grade effector-gene nomination.

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Annotates ChIP-seq peaks to genomic features, nearest genes, ENCODE candidate cis-regulatory elements (cCREs), and regulatory domains. Uses ChIPseeker (R), HOMER annotatePeaks.pl (CLI), pyranges (Python), GREAT/rGREAT (regulatory domain gene-set enrichment), ChIP-Enrich (locus-length-adjusted), ENCODE SCREEN cCRE classification (PLS/pELS/dELS/CA-CTCF/CA-H3K4me3), and ENCODE-rE2G for cell-type-specific enhancer-gene linking. Handles nearest-TSS vs host-gene ambiguity, promoter window definition, and feature priority. Use when assigning genomic context to peaks, linking enhancer peaks to target genes, classifying peaks against ENCODE cCRE registry, or running gene-set enrichment on peak-associated genes.

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Resolves GWAS associations to candidate causal variants and credible sets via SuSiE, susie_rss, FINEMAP, CAVIAR, DAP-G, PAINTOR, PolyFun, SuSiEx, MultiSuSiE, and FOCUS. Use when narrowing a GWAS lead SNP to a 95 percent credible set, choosing between in-sample and reference LD, calibrating non-sparse loci with SuSiE-inf or FINEMAP-inf, integrating functional priors via PolyFun, fine-mapping across ancestries with SuSiEx, diagnosing LD mismatch via estimate_s_rss and kriging_rss, handling HLA or long-range LD, or feeding credible sets into coloc.susie for colocalization.

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Calls HLA class I and class II alleles at 2/4/6/8-field resolution from WGS/WES/RNA-seq/long-read data using OptiType, HLA-LA, T1K, Polysolver, HLA-HD, arcasHLA, StarPhase, or HIBAG imputation. Use when typing for HSCT, solid-organ transplant, neoantigen prediction, PGx screening (B*57:01, B*15:02, etc.), or disease-association studies, with reconciliation across tools and IPD-IMGT/HLA version mismatch handling.

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Detect and adjust for horizontal pleiotropy in two-sample Mendelian randomization by distinguishing uncorrelated (UHP) from correlated (CHP) pleiotropy and choosing among Egger, MR-PRESSO, MR-RAPS, CAUSE, LHC-MR, LCV, MR-Clust, MR-Mix, and contamination-mixture methods. Use when validating an MR causal claim, running the STROBE-MR sensitivity battery, suspecting a shared heritable confounder, working under weak-instrument or polygenic-exposure regimes, or reconciling discordant estimates across robust methods.

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Treats a ctDNA assay as a molecule-counting experiment at the Poisson edge and builds its analytical-validation case the measurement-science way. Covers the genome-equivalent currency (~330 haploid copies/ng), the lambda = input_GE x VAF sampling ceiling (lambda>=3 for ~95% detection), the error-suppression ladder (raw NGS ~1e-3 -> single-strand UMI ~1e-4/1e-5 -> duplex <1e-7), the CLSI EP17 LoB/LoD/LoD95/LoQ framework, the per-locus-vs-panel-integrated LoD distinction that lets bespoke MRD reach ppm, contrived/SEQC2 reference standards, and honest LoD reporting conditioned on input mass + consensus depth + replicate detection rate. Use when stating or trusting a sensitivity claim, designing a dilution-series validation, deciding how many genome equivalents are needed at a target VAF, choosing a single-locus vs panel-integrated LoD, or auditing a "detects 0.1% VAF" claim.

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Plan, execute, and document validation, verification, and transfer of analytical procedures under the governing framework - ICH Q2(R2) and Q14, USP <1220>/<1225>/<1226>, ICH M10 bioanalytical, CLSI EP, or ISO/IEC 17025. Use for HPLC, LC-MS/MS, GC, CE, ICP-MS, dissolution, qNMR, qPCR, NIR, and ligand binding or cell-based assays whenever the question is whether a procedure is fit for its intended purpose. Triggers include "method validation", "analytical method validation", "AMV", "validation protocol", "acceptance criteria", "linearity", "reportable range", "accuracy and precision", "repeatability", "intermediate precision", "recovery", "LOD", "LOQ", "detection limit", "quantitation limit", "specificity", "robustness", "method transfer", "method comparison", "Deming", "Passing-Bablok", "Bland-Altman", "equivalence testing", "OOS investigation", "ICH Q2", "Q2(R2)", "Q14", "USP 1225", "ICH M10", "incurred sample reanalysis", "ISR", "CLSI EP", and any request to show that an assay works.

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This skill checks for contraindications or sources of inaccuracy that may affect continuous glucose monitoring (CGM) reliability in hospitalized adults. It is triggered when clinicians ask, “Are there factors that could make CGM unreliable?” or when assessing for skin infection, hypoperfusion, hypovolemia, vasoactive/pressor therapy, or medications such as acetaminophen >4 g/day, dopamine, vitamin C, or hydroxyurea.

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This skill suggests follow-up tests for specific comorbidities associated with Cushing's syndrome in patients with adrenal adenoma when CT density is less than 10 Hounsfield units. Use when managing a post-adrenalectomy Cushing's syndrome patient with confirmed adrenal adenoma pathology and low-density imaging (<10 HU).

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Work up Malignancy-Associated Hypercalcemia (MAH) — distinguish humoral hypercalcemia of malignancy (HHM, PTHrP-driven), local osteolytic hypercalcemia, 1,25(OH)2D-mediated lymphoma hypercalcemia, ectopic PTH secretion, and multiple myeloma — and pick the right confirmatory tests and therapy direction. Trigger when a clinician asks "is this hypercalcemia from cancer", "PTHrP positive what now", "hypercalcemia in lung cancer / breast cancer / lymphoma / myeloma", "humoral hypercalcemia of malignancy", "MAH workup", or any hypercalcemia case with suppressed PTH and a known or suspected malignancy.

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This skill recommends that all patients with Cushing’s syndrome receive monitoring and adjunctive treatment for cortisol-dependent comorbidities including psychiatric disorders, diabetes, hypertension, hypokalemia, infections, dyslipidemia, osteoporosis, and poor physical fitness. Apply when managing any CS patient to address associated health issues; triggers include confirmed or suspected hypercortisolism, preoperative evaluation, postoperative follow‑up, or persistent hypercortisolism despite treatment.

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This skill recommends lifelong follow-up tests for cardiac myxoma and associated disease (testicular tumors, acromegaly, thyroid lesions) in patients with Carney complex. Use when managing a Cushing’s syndrome patient with a confirmed or suspected Carney complex diagnosis (e.g., spotty skin lentigines, cardiac myxoma, endocrine tumors).

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This skill suggests treatment with either a calcimimetic or an intravenous bisphosphonate/denosumab for hypercalcemia due to parathyroid carcinoma. Triggered when a clinician diagnoses parathyroid carcinoma-associated hypercalcemia of malignancy and inquires about initial medical management options.

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Determines whether a hypertensive patient should be screened for primary aldosteronism based on clinical features associated with higher PA prevalence. Triggered when a clinician asks 'Should I screen this hypertensive patient for PA?' or observes spontaneous hypokalemia, resistant hypertension, hypertension onset before age 40, adrenal tumor, young-onset stroke, or sleep apnea syndrome.

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Suggests adjusting glucocorticoid dose according to severity of illness or magnitude of the stressor in patients with primary adrenal insufficiency. Use when patient with PAI has intercurrent illness, fever, or stress.

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Atlassian Administrator for managing and organizing Atlassian products (Jira, Confluence, Bitbucket, Trello), users, permissions, security, integrations, system configuration, and org-wide governance. Use when asked to add users to Jira, change Confluence permissions, configure access control, update admin settings, manage Atlassian groups, set up SSO, install marketplace apps, review security policies, or handle any org-wide Atlassian administration task.

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Use when writing C# / VB.NET / F# code that reads, writes, manipulates, or exports Excel (.xlsx / .xls) files, generates PDF or HTML from Excel, or produces data-driven reports with FlexCel Studio for .NET (TMS Software). Triggers include Excel/xlsx from C#, XlsFile, FlexCelReport, FlexCelPdfExport, FlexCelHtmlExport, FlexCelImgExport, ExcelFile, PdfWriter, .NET Excel export, ASP.NET Excel generation, .NET MAUI Excel, Native AOT + Excel, and Excel reporting from .NET.

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Use when writing Delphi / FreePascal / C++Builder code that reads, writes, manipulates, or exports Excel (.xlsx / .xls) files, generates PDF or HTML from Excel, or produces data-driven reports with FlexCel Studio for VCL and FireMonkey (TMS FlexCel). Triggers include Excel/xlsx from Delphi, TXlsFile, TFlexCelReport, TFlexCelPdfExport, TFlexCelHtmlExport, FireMonkey Excel export, Lazarus Excel, and Excel reporting from Pascal.

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Find the first batch of foreign-trade prospect companies from public web, LinkedIn, and user-authorized data sources such as customs exports, trade show lists, association directories, CRM/Excel files, or historical customer data, then output a conservative, structured candidate list ready for lead screening.

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