Associated Papers
The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients.
Gorny M et al.
European Journal of Human Genetics : Ejhg, 2026
Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.
Miyashita M et al.
Breast Cancer Research : Bcr, 2023
37231433 (PubMed )
Supplement: 13058_2023_1627_MOESM4_ESM.xlsx › All_Subtypes__mutations_
Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.
Parada-Márquez JF et al.
Frontiers in Pharmacology, 2023
37021041 (PubMed )
Supplement: Table2.xlsx › Hoja1
The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.
Zhou Y et al.
The Pharmacogenomics Journal, 2022
36068297 (PubMed )
Supplement: 41397_2022_288_MOESM4_ESM.xlsx › Sheet1
Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.
Goljan E et al.
Plos One, 2022
35089958 (PubMed )
Supplement: pone.0263137.s002.xlsx › Sheet1
Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.
Silgado-Guzmán DF et al.
Frontiers in Pharmacology, 2022
35846994 (PubMed )
Supplement: Table2.xlsx › Hoja1
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar SM et al.
International Journal of Molecular Sciences, 2020
32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › In_House_LOF
Genetic variation of cytochrome P450 in Uyghur Chinese population.
Qi G et al.
Drug Metabolism and Pharmacokinetics, 2018
Genetic polymorphisms of the drug-metabolizing enzyme cytochrome P450 2A6 in a Tibetan Chinese population.
Xia R et al.
International Journal of Clinical and Experimental Pathology, 2018
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Saleheen D et al.
Nature, 2017
28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
Genetic polymorphisms of the drug-metabolizing enzyme cytochrome P450 3A5 in a Uyghur Chinese population.
Chen Z et al.
Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2016
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
26023681 (PubMed )
Supplement: mmc1.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 266.133
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