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30개의 글

전체약물유전체학유전체분석유전성암유전자검사영양유전학유전체건강ResearchStatisticsProteomicsBioAINutritionBrain HealthMetabolic HealthGut HealthSleep ScienceSupplements
약물유전체학2026년 6월 23일· 7 min read

Why Single-Variant Pharmacogenomics Is Misleading: Star Alleles, Diplotypes, and What DTC Arrays Miss

A confident pharmacogenomics result from a single SNP looks reassuring and is often wrong. Real PGx is diplotype (star-allele) calling, and consumer genotyping arrays like 23andMe can't do it reliably. Here's why single-variant annotation misleads, which genes you can and can't trust from array data, and what a defensible PGx tool actually has to do.

#pharmacogenomics#PGx#star allele#diplotype
유전체분석2026년 5월 27일· 12 min read

ClinVar Variant Pathogenicity Lookup in Python — Programmatic Access for Hereditary Disease Screening (2026)

Step-by-step Python tutorial: query NCBI ClinVar via E-utilities API to get pathogenicity classification (Pathogenic, Likely Benign, VUS) for any SNP or variant. Useful for batch-screening 23andMe / WGS data against BRCA, Lynch syndrome, hereditary cancer panels, and any clinically annotated variant set.

#ClinVar#Python API#NCBI E-utilities#variant pathogenicity
약물유전체학2026년 5월 27일· 11 min read

Extracting CYP2C19 Star Alleles from 23andMe — Plavix (Clopidogrel) Response Prediction in Python

Python tutorial: parse 23andMe raw data for CYP2C19 *2, *3, and *17 variants, predict your clopidogrel (Plavix) response phenotype, and understand why ~20% of Koreans get suboptimal antiplatelet protection on standard dosing. Includes the SNP-to-star-allele lookup, phenotype interpretation, and where DTC data falls short.

#CYP2C19#23andMe#clopidogrel#Plavix
약물유전체학2026년 5월 23일· 12 min read

Reading 23andMe Raw Data for CYP2D6 Star Alleles in Python — Why DTC Often Misses *5 Deletion

Step-by-step Python tutorial: parse a 23andMe raw data file, look up CYP2D6 star alleles from SNPs, and understand why some clinically important variants (like CYP2D6 *5 whole-gene deletion) are invisible to SNP-based DTC testing. Includes code for *2, *3, *4, *6, *10, *17 detection and a guide to which alleles you can and can't catch.

#23andMe#CYP2D6#PGx#약물유전체학