jaechang-hits

Cancer genomics (TCGA et al.) via cBioPortal REST API. Retrieve somatic mutations, CNAs, expression, clinical data (survival/stage/treatment) across thousands of studies. Use for TMB, oncoprints, survival analysis. For population frequencies use gnomad-database; for drug-gene interactions use opentargets-database.

Guide for annotating statistical significance (p-value asterisks) on comparison plots. Covers standard notation (ns, *, **, ***, ****), matplotlib bracket+asterisk implementation, and use with seaborn box/violin/bar plots. Use when preparing publication-ready figures with significance markers.

Best practices for single-cell RNA-seq cell type annotation including marker-based, reference-based, and automated classification approaches.

NCBI GEO access via GEOparse and E-utilities. Search by keyword/organism/platform, download GSE series matrices, parse GPL annotations, extract GSM metadata, load expression matrices into pandas. For single-cell use cellxgene-census; for multi-DB access use gget-genomic-databases.

NCBI Gene via E-utilities: curated records across 1M+ taxa. Official symbols, aliases, RefSeq IDs, summaries, coordinates, GO, interactions. Use for gene ID resolution and cross-species function queries. For sequences use Ensembl; for expression use geo-database.

Systematic strategies for searching scientific literature across PubMed, arXiv, Google Scholar, and AI-assisted tools. Covers PICO framework for clinical questions, three-tiered search (database-specific, AI-assisted, content extraction), PubMed field tags and MeSH, boolean query construction, and full-text extraction. Use when planning a literature search or choosing a search tier.

Query Metabolomics Workbench REST API (4,200+ NIH studies) for metabolite ID, study discovery, RefMet standardization, m/z precursor searches, and gene/protein annotations. Quirks: compound input_item rejects `name` (use pubchem_cid/kegg_id/inchi_key/etc.); free-text → compound is a two-step refmet/match→refmet/name flow; moverz endpoint returns TSV text, not JSON. Use hmdb-database for local XML;

Medical image segmentation with nnU-Net's self-configuring framework — auto-selects architecture, preprocessing, training for any modality. CT, MRI, microscopy, ultrasound in 2D, 3D full-res, 3D low-res, cascade. Pipeline: convert → plan/preprocess → train (5-fold CV) → best config → predict → ensemble. Use when classical segmentation fails and annotated data exists.

Guide to quality filtering raw VCF files before computing summary stats (Ts/Tv ratio, variant counts, AF distributions). Covers detecting raw VCFs via FILTER column and QUAL inspection, QUAL-based filtering with bcftools, Ts/Tv interpretation, and when NOT to filter. Read before any variant-level QC task. See bcftools-variant-manipulation for advanced filters, gatk-variant-calling for caller confi

Filter degenerate, uninformative inputs before statistical tests: single-sequence alignments, empty files, constant features, zero-variance inputs, all-NaN columns. See nan-safe-correlation for NaN-aware correlation; statistical-analysis for test guidance.

Python library for healthcare ML on EHR data: process MIMIC-III/IV, eICU, OMOP-CDM; encode medical codes (ICD, ATC, NDC); build patient-level datasets; train Transformer, RETAIN, GRASP, MedBERT for mortality, drug recommendation, readmission, diagnosis prediction. Alternatives: FIDDLE (preprocessing), clinical-longformer (clinical NLP), ehr-ml (embeddings).

Genomic interval ops on BED/BAM/GFF/VCF. Find overlaps, merge intervals, compute coverage, extract FASTA, find nearest features. Core for ChIP-seq peak annotation, region filtering, genome arithmetic. Use tabix for indexed single-region queries; use deeptools for normalized bigWig coverage.