P464: A case report using ancestry-adjusted genome-wide polygenic risk scores with 7,000 serum protein testing to improve intervention and outcome

Diagnostic Workup: All patients underwent methylation analysis for initial AS testing, with follow-up tests including FISH and chromosomal microarray analysis to identify specific genetic defect.The 15q11.2 region deletion was confirmed with FISH or SNV array.Cases with normal Angelman methylation analysis were evaluated using ES analysis.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103331
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00
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article

P464: A case report using ancestry-adjusted genome-wide polygenic risk scores with 7,000 serum protein testing to improve intervention and outcome

Daniel Siu, Stephen Tak Sum Lam, Jeffrey R. Gulcher, Wai Ki Law
Genetics in Medicine Open
BRCA gene mutations in cancer
article

P464: A case report using ancestry-adjusted genome-wide polygenic risk scores with 7,000 serum protein testing to improve intervention and outcome

Daniel Siu, Stephen Tak Sum Lam, Jeffrey R. Gulcher, Wai Ki Law
article en

Abstract

Diagnostic Workup: All patients underwent methylation analysis for initial AS testing, with follow-up tests including FISH and chromosomal microarray analysis to identify specific genetic defect.The 15q11.2 region deletion was confirmed with FISH or SNV array.Cases with normal Angelman methylation analysis were evaluated using ES analysis.

Genetics in Medicine OpenVol. 3
Hong Kong Sanatorium and Hospital (HK), Institut thématique Génétique, génomique et bioinformatique (FR), ID Genomics (United States) (US)
Openalex Percentile: Top 94%
BRCA gene mutations in cancer
DOIOpen Access PDFOpenAlex
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