Genobalance

연구 데이터 기반 건강과학 & 영양정보 블로그

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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.

6/23

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.

5/27

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.

5/27

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.

5/23

BRCA1/2와 유전성 암 — 유전자 검사·예방 전략 완전 가이드 2026

유방암·난소암 가족력이 있을 때 BRCA1/2 유전자 검사가 정말 필요한가. Angelina Jolie 효과 이후의 2026년 임상 가이드라인, 국내 보험 적용, PARP 억제제 신약, Lynch 증후군까지 — 25개 유전성 암 증후군과 한국에서의 검사·관리 실무 가이드.

5/19

DTC Genetic Testing in 2026: Complete Buyer's Guide (Post-23andMe Era)

Definitive 2026 guide to direct-to-consumer genetic testing after 23andMe's bankruptcy. Compare AncestryDNA, MyHeritage, Nebula, Dante Labs, and 6 more services on accuracy, data privacy, cost, and what they actually deliver. Includes raw data analysis tools and interpretation guide.

5/18