Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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University of Malaya
Kuala Lumpur, MalasiaPublicacións en colaboración con investigadores/as de University of Malaya (39)
2024
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Comparison of the ABC and ACMG systems for variant classification
European Journal of Human Genetics
2023
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A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2
Human Mutation, Vol. 2023
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Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
Nature Genetics, Vol. 55, Núm. 12, pp. 2065-2074
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Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry
American Journal of Human Genetics, Vol. 110, Núm. 7, pp. 1200-1206
2022
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Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants
Journal of Clinical Oncology, Vol. 40, Núm. 14, pp. 1529-1541
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Human Mutation, Vol. 43, Núm. 12, pp. 1921-1944
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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Communications biology, Vol. 5, Núm. 1, pp. 1061
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Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))
European journal of human genetics : EJHG
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362
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Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score
Prostate cancer and prostatic diseases, Vol. 25, Núm. 4, pp. 755-761
2021
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Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer
Prostate Cancer and Prostatic Diseases, Vol. 24, Núm. 2, pp. 532-541
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Breast cancer risk genes - Association analysis in more than 113,000 women
New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439
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Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
American Journal of Human Genetics, Vol. 108, Núm. 7, pp. 1190-1203
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Polygenic hazard score is associated with prostate cancer in multi-ethnic populations
Nature Communications, Vol. 12, Núm. 1
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Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (Nature Genetics, (2021), 53, 1, (65-75), 10.1038/s41588-020-00748-0)
Nature Genetics
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The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Genetics in Medicine, Vol. 23, Núm. 9, pp. 1726-1737
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Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
Nature Genetics, Vol. 53, Núm. 1, pp. 65-75
2020
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An integrative multi-omics analysis to identify candidate DNA methylation biomarkers related to prostate cancer risk
Nature Communications, Vol. 11, Núm. 1
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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Nature Genetics, Vol. 52, Núm. 1, pp. 56-73
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Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan
Nature Communications, Vol. 11, Núm. 1