'deno' 검색 결과

Call copy number variants with the GATK best-practices workflows — the somatic CNV pipeline (CollectReadCounts, DenoiseReadCounts with tangent normalization, ModelSegments, CallCopyRatioSegments) and the germline GATK-gCNV pipeline (DetermineGermlineContigPloidy, GermlineCNVCaller cohort/case mode, PostprocessGermlineCNVCalls). Covers panel-of-normals construction, AnnotateIntervals/FilterIntervals, allelic-count integration, and QS-based filtering. Use when integrating CNV calling into a GATK variant pipeline, calling rare germline CNVs from an exome cohort, deciding between the somatic and germline GATK workflows, or diagnosing why tangent normalization removed a real event or why gCNV output has low precision.

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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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Map N6-methyladenosine (m6A) RNA modifications at single-nucleotide resolution using miCLIP (Linder 2015), miCLIP2 + m6Aboost machine learning (Kortel 2021), GLORI (Liu 2023, antibody-free chemical conversion), DART-seq (Meyer 2019, APOBEC1-YTH fusion), m6Anet (nanopore direct RNA), or MeRIP-seq with calibration. Use when distinguishing antibody-based from antibody-free m6A detection methods, applying the DRACH motif constraint, reconciling cross-method disagreements (DART 44% in DRACH vs GLORI), or detecting m6Am at the cap.

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Up-to-date Zig programming language patterns for version 0.17.0-dev (0.16.0 stable APIs plus the 0.17 deltas). Use when writing, reviewing, or debugging Zig code, working with build.zig and build.zig.zon files, or using comptime metaprogramming. Critical for avoiding outdated patterns from training data - especially std.net→std.Io.net (requires Io instance), std.time timestamps removed (use clock_gettime), std.Thread.Mutex/Condition/sleep removed (use pthreads), std.crypto.random removed, build system APIs (root_module, Compile methods→Module methods), I/O APIs (buffered writer pattern), container initialization (.empty/.init), allocator selection (DebugAllocator), ArrayList now unmanaged by default, @typeInfo lowercase fields (.@"struct" not .Struct), and removed language features (async/await, usingnamespace). Also covers 0.17.0-dev deltas: b.args→run_cmd.addPassthruArgs(), std.gpu→std.spirv, @bitCast logical-bit (endian-agnostic) semantics, build configurer/maker split, and the zig-pkg/ package directory. Also covers quality tooling Zig does not ship: coverage with kcov (and why in-file tests wreck the denominator), detecting unused private functions (neither the compiler nor zlint's unused-decls finds them), duplicate detection with jscpd, zlint (NOT the same-named X.509 linter in Homebrew), and the built-in fuzzer whose testOne now takes *std.testing.Smith rather than []const u8.

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This skill recommends using radiation therapy for corticotroph adenomas in Cushing's disease when imaging shows invasive features or mass‑effect concerns such as cavernous sinus invasion, suprasellar extension, or knobby protrusion. Consider RT when postoperative medical therapy has normalized cortisol but tumor progression or residual invasive disease is suspected.

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This skill recommends bilateral adrenalectomy for patients with Cushing's syndrome when bilateral adrenal pathology is confirmed as the source of hypercortisolism. Clinical triggers include bilateral macronodular adrenal hyperplasia (BMAH), bilateral adrenal adenomas, or bilateral adrenal carcinoma identified by imaging.

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Suggests repeat transsphenoidal surgery for patients with persistent hypercortisolism after initial transsphenoidal surgery when imaging shows evidence of incomplete resection or a pituitary lesion. Clinical triggers include postoperative MRI revealing residual adenoma, persistent elevated UFC or late-night salivary cortisol, and visible pituitary lesion on imaging.

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Recommends initial surgical resection of the primary lesion(s) causing Cushing's syndrome when surgery is feasible and likely to significantly reduce glucocorticoid excess. Trigger phrases include overt Cushing's syndrome, ACTH-dependent CS, ectopic ACTH secretion, adrenal adenoma, bilateral macronodular adrenal hyperplasia, and persistent hypercortisolism.

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This skill advises regular visual examination of the mouth to monitor for osteonecrosis of the jaw and other dental issues in patients receiving antiresorptive agents. Trigger phrases include initiating bisphosphonate or denosumab therapy and requesting preventive dental care guidance.

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Recommends initiating intravenous bisphosphonate or denosumab for adults with hypercalcemia of malignancy compared with no treatment. Use when a clinician asks about first‑line pharmacologic therapy for HCM or when deciding to start antiresorptive agents.

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This skill categorizes hypercalcemia of malignancy (HCM) severity using albumin‑adjusted serum calcium into mild (<12 mg/dL), moderate (12‑14 mg/dL), or severe (>14 mg/dL). Use it when a clinician needs to stage HCM to guide initial therapy choices, such as deciding between observation, IV bisphosphonate/denosumab, or calcitonin‑based combination regimens.

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The skill suggests adding a calcimimetic for hypercalcemia of malignancy due to parathyroid carcinoma that persists after intravenous bisphosphonate or denosumab therapy. It is triggered when a clinician notes refractory HCM despite antiresorptive therapy and considers adding a calcimimetic.

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Recommends adding intravenous bisphosphonate or denosumab when hypercalcemia due to parathyroid carcinoma is not adequately controlled with a calcimimetic. Consider this adjunct when a clinician notes persistent HCM despite calcimimetic therapy and asks about next-step therapy.

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Determines whether to recommend unilateral laparoscopic adrenalectomy or medical therapy with a mineralocorticoid receptor antagonist for patients with confirmed unilateral PA (aldosterone-producing adenoma or unilateral adrenal hyperplasia). Triggered when discussing treatment options after confirming unilateral PA in a hypertensive patient with hypokalemia or resistant hypertension.

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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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The guideline suggests checking serum magnesium and phosphate levels and repleting if low in patients receiving antiresorptive therapy for hypercalcemia of malignancy. Clinicians should consider this when they note electrolyte abnormalities or inquire about supportive care during bisphosphonate or denosumab treatment.

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Recommends checking and managing vitamin D according to Endocrine Society guidelines to avoid hypocalcemia in patients receiving bisphosphonates or denosumab for hypercalcemia of malignancy. Use when a clinician notes risk factors for hypocalcemia (e.g., low 25‑OH vitamin D, renal insufficiency) and asks about baseline labs before antiresorptive start.

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This skill suggests using denosumab rather than an intravenous bisphosphonate for adults with hypercalcemia of malignancy. It is triggered when a clinician questions which antiresorptive to choose first or seeks guidance on drug selection for HCM.

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Recommends combination of calcitonin and an intravenous bisphosphonate or denosumab as initial treatment for severe hypercalcemia (serum calcium >14 mg/dL). Indicated when a clinician notes severe HCM or seeks rapid calcium lowering in symptomatic patients.

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Recommends adding intravenous bisphosphonate or denosumab in adults with hypercalcemia of malignancy due to tumors with high calcitriol levels (e.g., lymphoma) who remain severe or symptomatic despite glucocorticoid therapy. Use when managing lymphoma‑related HCM on steroids and considering escalation of antiresorptive therapy.

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Recommends denosumab for adults with refractory or recurrent hypercalcemia of malignancy who have persistent or relapsed hypercalcemia despite intravenous bisphosphonate therapy. Triggered when a clinician observes recurrent hypercalcemia after bisphosphonate treatment or considers next‑line agents for HCM.

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Differentiates aldosterone-producing adenoma from idiopathic adrenal hyperplasia based on 18-hydroxycorticosterone levels, with APA patients generally having levels >100 ng/dL at 8:00 a.m. and IAH patients usually having levels <100 ng/dL. Use when reviewing 18-OHB test results to help subtype PA; triggers include 18-OHB >100 ng/dL (suggesting APA) or <100 ng/dL (suggesting IAH).

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Helps distinguish unilateral from bilateral adrenal disease based on 18-oxocortisol levels, which are typically higher in aldosterone-producing adenoma than idiopathic adrenal hyperplasia. Use when evaluating 18-oxocortisol results during PA workup to guide subtype classification after a positive ARR.

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Interprets the postural stimulation test to detect angiotensin II‑unresponsive aldosterone‑producing adenoma (APA) or familial hyperaldosteronism type I (FH‑I) when aldosterone fails to rise with upright posture. Triggered by clinical cues such as “postural stimulation test shows no aldosterone increase”, “suspected APA with non‑responsive aldosterone”, or “evaluating FH‑I in young patients with early‑onset hypertension and hypokalemia”.

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