Yitian Zhou

About me
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Public outreach and news

Research

My research focuses on characterizing the variation on human pharmacogenome, with particular interest in CYP genes, drug transporters and HLA genes. I studied distribution of clinically relevant variant alleles across different populations and ethnicities to infer their consequence on drug response phenotype. By leveraging AI/ML-based computational tools, I developed methods to interpret functional impact of pharmacogenetic variants, including rare variants as the majority identified from next-generation sequencing projects.

Teaching

Pharmacogenomics sessions for the Master's Programme in Translational Physiology and Pharmacology, KI

Articles

Journal article: JOURNAL OF GENETICS AND GENOMICS. 2024;:S1673-8527(24)00161-9

Population-scale variability of the human UDP-glycosyltransferase gene family.

González-Padilla D; Camara MD; Lauschke VM; Zhou Y
Article: PHARMACOGENOMICS JOURNAL. 2024;24(3):17

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y; Pirmann S; Lauschke VM
Article: ANTIMICROBIAL AGENTS AND CHEMOTHERAPY. 2024;68(5):e01390-e01323

Population-specific variations in KCNH2 predispose patients to delayed ventricular repolarization upon dihydroartemisinin-piperaquine therapy.

Camara MD; Zhou Y; Dara A; Tékété MM; Nóbrega de Sousa T; Sissoko S; Dembélé L; Ouologuem N; Hamidou Togo A; Alhousseini ML; Fofana B; Sagara I; Djimde AA; Gil PJ; Lauschke VM
Article: HUMAN GENOMICS. 2024;18(1):40

Meta-analysis of the global distribution of clinically relevant CYP2C8 alleles and their inferred functional consequences.

Camara MD; Zhou Y; De Sousa TN; Gil JP; Djimde AA; Lauschke VM
Article: NPJ GENOMIC MEDICINE. 2023;8(1):24

Structural variation of the coding and non-coding human pharmacogenome.

Tremmel R; Zhou Y; Schwab M; Lauschke VM
Article: CLINICAL PHARMACOLOGY & THERAPEUTICS. 2023;113(3):712-723

Cross-Ancestry Genome-Wide Association Study Defines the Extended CYP2D6 Locus as the Principal Genetic Determinant of Endoxifen Plasma Concentrations.

Khor CC; Winter S; Sutiman N; Mürdter TE; Chen S; Lim JSL; Li Z; Li J; Sim KS; Ganchev B; Eccles D; Eccles B; Tapper W; Zgheib NK; Tfayli A; Ng RCH; Yap YS; Lim E; Wong M; Wong NS; Ang PCS; Dent R; Tremmel R; Klein K; Schaeffeler E; Zhou Y; Lauschke VM; Eichelbaum M; Schwab M; Brauch HB; Chowbay B; Schroth W
Article: HUMAN GENOMICS. 2023;17(1):15

Global distribution of functionally important CYP2C9 alleles and their inferred metabolic consequences.

Zhou Y; Nevosadová L; Eliasson E; Lauschke VM
Article: LANCET. 2023;401(10374):347-356

A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study.

Swen JJ; van der Wouden CH; Manson LE; Abdullah-Koolmees H; Blagec K; Blagus T; Böhringer S; Cambon-Thomsen A; Cecchin E; Cheung K-C; Deneer VH; Dupui M; Ingelman-Sundberg M; Jonsson S; Joefield-Roka C; Just KS; Karlsson MO; Konta L; Koopmann R; Kriek M; Lehr T; Mitropoulou C; Rial-Sebbag E; Rollinson V; Roncato R; Samwald M; Schaeffeler E; Skokou M; Schwab M; Steinberger D; Stingl JC; Tremmel R; Turner RM; van Rhenen MH; Dávila Fajardo CL; Dolžan V; Patrinos GP; Pirmohamed M; Sunder-Plassmann G; Toffoli G; Guchelaar H-J; Ubiquitous Pharmacogenomics Consortium
Article: HANDBOOK OF EXPERIMENTAL PHARMACOLOGY. 2023;280:237-260

Challenges Related to the Use of Next-Generation Sequencing for the Optimization of Drug Therapy.

Zhou Y; Lauschke VM
Article: ISCIENCE. 2022;25(12):105506

Scellseg: A style-aware deep learning tool for adaptive cell instance segmentation by contrastive fine-tuning.

Xun D; Chen D; Zhou Y; Lauschke VM; Wang R; Wang Y
Article: PHARMACOGENOMICS JOURNAL. 2022;22(5-6):284-293

The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.

Zhou Y; Lauschke VM
Article: BIOMEDICINE & PHARMACOTHERAPY. 2022;154:113644

Rare genetic variant burden in DPYD predicts severe fluoropyrimidine-related toxicity risk.

De Mattia E; Silvestri M; Polesel J; Ecca F; Mezzalira S; Scarabel L; Zhou Y; Roncato R; Lauschke VM; Calza S; Spina M; Puglisi F; Toffoli G; Cecchin E
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2022;109(6):1077-1091

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.

Trpchevska N; Freidin MB; Broer L; Oosterloo BC; Yao S; Zhou Y; Vona B; Bishop C; Bizaki-Vallaskangas A; Canlon B; Castellana F; Chasman DI; Cherny S; Christensen K; Concas MP; Correa A; Elkon R; Estonian Biobank Research Team; Mengel-From J; Gao Y; Giersch ABS; Girotto G; Gudjonsson A; Gudnason V; Heard-Costa NL; Hertzano R; Hjelmborg JVB; Hjerling-Leffler J; Hoffman HJ; Kaprio J; Kettunen J; Krebs K; Kähler AK; Lallemend F; Launer LJ; Lee I-M; Leonard H; Li C-M; Lowenheim H; Magnusson PKE; van Meurs J; Milani L; Morton CC; Mäkitie A; Nalls MA; Nardone GG; Nygaard M; Palviainen T; Pratt S; Quaranta N; Rämö J; Saarentaus E; Sardone R; Satizabal CL; Schweinfurth JM; Seshadri S; Shiroma E; Shulman E; Simonsick E; Spankovich C; Tropitzsch A; Lauschke VM; Sullivan PF; Goedegebure A; Cederroth CR; Williams FMK; Nagtegaal AP
Article: PHARMACEUTICS. 2022;14(5):944

Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Dagli-Hernandez C; Borges JB; Marçal EDSR; de Freitas RCC; Mori AA; Gonçalves RM; Faludi AA; de Oliveira VF; Ferreira GM; Bastos GM; Zhou Y; Lauschke VM; Cerda A; Hirata MH; Hirata RDC
Article: PHARMACOLOGICAL RESEARCH. 2022;176:106087

Identification and functional validation of novel pharmacogenomic variants using a next-generation sequencing-based approach for clinical pharmacogenomics.

Siamoglou S; Koromina M; Hishinuma E; Yamazaki S; Tsermpini E-E; Kordou Z; Fukunaga K; Chantratita W; Zhou Y; Lauschke VM; Mushiroda T; Hiratsuka M; Patrinos GP
Article: GENETICS IN MEDICINE. 2022;24(1):157-169

Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma.

Yang M; Johnsson P; Bräutigam L; Yang XR; Thrane K; Gao J; Tobin NP; Zhou Y; Yu R; Nagy N; Engström PG; Tuominen R; Eriksson H; Lundeberg J; Tucker MA; Goldstein AM; Egyhazi-Brage S; Zhao J; Cao Y; Höiom V
Article: SCIENCE ADVANCES. 2021;7(36):eabi6856

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y; Arribas GH; Turku A; Jürgenson T; Mkrtchian S; Krebs K; Wang Y; Svobodova B; Milani L; Schulte G; Korabecny J; Gastaldello S; Lauschke VM
Journal article: EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY. 2021;77(8):1095-1111

Pharmacogenetics of tamoxifen therapy in Asian populations: from genetic polymorphism to clinical outcomes.

Wang T; Zhou Y; Cao G
Article: ANTIMICROBIAL AGENTS AND CHEMOTHERAPY. 2021;65(7):e0027521-e00221

Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.

Pernaute-Lau L; Adegnika AA; Zhou Y; Zinsou JF; Gil JP; Krishna S; Kremsner PG; Lauschke VM; Velavan TP
Article: CLINICAL PHARMACOLOGY & THERAPEUTICS. 2021;109(1):160-174

Global Frequencies of Clinically Important HLA Alleles and Their Implications For the Cost-Effectiveness of Preemptive Pharmacogenetic Testing.

Zhou Y; Krebs K; Milani L; Lauschke VM
Journal article: PHARMACOGENOMICS RESEARCH AND PERSONALIZED MEDICINE. 2021;0(0):0

Should we test for SLCO1B1 genotype before prescribing statins? A discussion of clinical trial results

Zhou Y; Lauschke VM
Article: BRITISH JOURNAL OF CANCER. 2020;123(12):1782-1789

Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier.

Zhou Y; Dagli Hernandez C; Lauschke VM
Article: HUMAN GENETICS. 2020;139(5):623-646

Ethnogeographic and inter-individual variability of human ABC transporters.

Xiao Q; Zhou Y; Lauschke VM
Article: INTERNATIONAL JOURNAL OF CANCER. 2020;146(9):2475-2487

Germline variant burden in multidrug resistance transporters is a therapy-specific predictor of survival in breast cancer patients.

Xiao Q; Zhou Y; Winter S; Büttner F; Schaeffeler E; Schwab M; Lauschke VM
Article: MOLECULAR PHARMACEUTICS. 2020;17(4):1170-1181

In Vitro Functional Characterization and in Silico Prediction of Rare Genetic Variation in the Bile Acid and Drug Transporter, Na+-Taurocholate Cotransporting Polypeptide (NTCP, SLC10A1).

Russell LE; Zhou Y; Lauschke VM; Kim RB
Article: COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL. 2020;18:52-58

Pharmacogenomic network analysis of the gene-drug interaction landscape underlying drug disposition.

Zhou Y; Lauschke VM
Article: PHARMACOGENOMICS. 2019;20(15):1085-1092

CYP3A5 is unlikely to mediate anticancer drug resistance in hepatocellular carcinoma.

Lauschke VM; Nordling Å; Zhou Y; Fontalva S; Barragan I; Ingelman-Sundberg M
Article: PHARMACOGENOMICS JOURNAL. 2019;19(2):115-126

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y; Mkrtchian S; Kumondai M; Hiratsuka M; Lauschke VM
Article: JOURNAL OF LIPID RESEARCH. 2018;59(10):1987-2000

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Zhou Y; Mägi R; Milani L; Lauschke VM
Article: JOURNAL OF MEDICAL GENETICS. 2018;55(9):617-627

Comprehensive overview of the pharmacogenetic diversity in Ashkenazi Jews.

Zhou Y; Lauschke VM
Article: TOXICOLOGICAL SCIENCES. 2018;163(2):655-665

Prediction of Drug-Induced Hepatotoxicity Using Long-Term Stable Primary Hepatic 3D Spheroid Cultures in Chemically Defined Conditions.

Vorrink SU; Zhou Y; Ingelman-Sundberg M; Lauschke VM
Article: HUMAN GENOMICS. 2018;12(1):26

Integrating rare genetic variants into pharmacogenetic drug response predictions.

Ingelman-Sundberg M; Mkrtchian S; Zhou Y; Lauschke VM
Journal article: PROCEEDINGS FOR ANNUAL MEETING OF THE JAPANESE PHARMACOLOGICAL SOCIETY. 2018;WCP2018(0):po4-9-16

Prediction of drug-induced hepatotoxicity using long-term stable primary hepatic 3D spheroid cultures

Vorrink SU; Zhou Y; Ingelman-Sundberg M; Lauschke VM
Article: CLINICAL PHARMACOLOGY & THERAPEUTICS. 2017;102(4):688-700

Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects.

Zhou Y; Ingelman-Sundberg M; Lauschke VM
Article: SCIENTIFIC REPORTS. 2014;4:6978

Trend of telomerase activity change during human iPSC self-renewal and differentiation revealed by a quartz crystal microbalance based assay.

Zhou Y; Zhou P; Xin Y; Wang J; Zhu Z; Hu J; Wei S; Ma H
Article: ACS APPLIED MATERIALS & INTERFACES. 2014;6(11):8313-8319

Molecular composition, grafting density and film area affect the swelling-induced Au-S bond breakage.

Lv B; Zhou Y; Cha W; Wu Y; Hu J; Li L; Chi L; Ma H
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All other publications

Review: EXPERT REVIEW OF CLINICAL PHARMACOLOGY. 2024;17(3):213-223

Next-generation sequencing in pharmacogenomics - fit for clinical decision support?

Zhou Y; Lauschke VM
Review: ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY. 2024;64:33-51

Pharmacogenomics Beyond Single Common Genetic Variants: The Way Forward.

Lauschke VM; Zhou Y; Ingelman-Sundberg M
Review: BRITISH JOURNAL OF CLINICAL PHARMACOLOGY. 2023

Translating pharmacogenomic sequencing data into drug response predictions-How to interpret variants of unknown significance.

Tremmel R; Pirmann S; Zhou Y; Lauschke VM
Conference publication: NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY. 2023;396:S52

PharmFreq: a comprehensive database of worldwide allelic frequencies in clinically important pharmacogenes

Tremmel R; Zhou Y; Nevosadova L; Laarif S; Eliasson E; Lauschke VM
Conference publication: NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY. 2023;396:S52

Multi-dimensional omics profiling of a biobank reveals the interindividual variability of ADME gene expression in human liver

Klein K; Nies AT; Haag M; Hofmann U; Artursson P; Handin N; Burk O; Tremmel R; Winter S; Zhou Y; Schaeffeler E; Zanger UM; Lauschke VM; Schwab M
Review: BASIC & CLINICAL PHARMACOLOGY & TOXICOLOGY. 2022;131(6):452-464

A paradigm shift in pharmacogenomics: From candidate polymorphisms to comprehensive sequencing.

Zhou Y; Koutsilieri S; Eliasson E; Lauschke VM
Editorial comment: ANNALS OF TRANSLATIONAL MEDICINE. 2022;10(23):1293-0

Should we test for SLCO1B1 genotype before prescribing statins?-a discussion of clinical trial results.

Zhou Y; Lauschke VM
Review: TRENDS IN PHARMACOLOGICAL SCIENCES. 2022;43(10):852-865

Challenges and opportunities associated with rare-variant pharmacogenomics.

Zhou Y; Tremmel R; Schaeffeler E; Schwab M; Lauschke VM
Conference publication: 2022;:30-35

Profile genetic variability and population diversity of C-C chemokine receptor type 5 (CCR5) gene in HIV infection

Sun Y; Zhou Y
Review: HUMAN GENETICS. 2022;141(6):1113-1136

Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.

Zhou Y; Lauschke VM
Review: PHARMACOLOGICAL REPORTS. 2022;74(1):47-66

Pharmacogenomics of statins: lipid response and other outcomes in Brazilian cohorts.

Dagli-Hernandez C; Zhou Y; Lauschke VM; Genvigir FDV; Hirata TDC; Hirata MH; Hirata RDC
Review: PHARMACOLOGICAL REVIEWS. 2022;74(1):141-206

Organotypic and Microphysiological Human Tissue Models for Drug Discovery and Development-Current State-of-the-Art and Future Perspectives.

Youhanna S; Kemas AM; Preiss L; Zhou Y; Shen JX; Cakal SD; Paqualini FS; Goparaju SK; Shafagh RZ; Lind JU; Sellgren CM; Lauschke VM
Review: ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS. 2022;22(13):1263-1275

Pharmacogenomics of Antihypertensive Drugs in Brazil: Recent Progress and Clinical Implications.

Vecchia Genvigir FD; Dagli-Hernandez C; Hirata TDC; Zhou Y; Lauschke VM; Hirata MH; Hirata RDC
Book chapter: COMPREHENSIVE PHARMACOLOGY. 2022;p. 53-83

2.05 Computational Methods and Approaches in Pharmacogenomic Research

Zhou Y; Lauschke VM
Preprint: BIORXIV. 2021

Scellseg: a style-aware cell instance segmentation tool with pre-training and contrastive fine-tuning

Xun D; Chen D; Zhou Y; Lauschke V; Wang R; Wang Y
Review: MOLECULAR DIAGNOSIS & THERAPY. 2021;25(6):735-755

Cardiovascular Pharmacogenomics: An Update on Clinical Studies of Antithrombotic Drugs in Brazilian Patients.

Hirata TDC; Dagli-Hernandez C; Genvigir FDV; Lauschke VM; Zhou Y; Hirata MH; Hirata RDC
Thesis / dissertation: 2021

Assessing the importance of rare genetic variants for drug response

Zhou, Yitian
Review: CLINICAL PHARMACOLOGY & THERAPEUTICS. 2021;110(3):626-636

Computational Tools to Assess the Functional Consequences of Rare and Noncoding Pharmacogenetic Variability.

Zhou Y; Lauschke VM
Review: DRUG METABOLISM REVIEWS. 2021;53(2):253-278

Pharmacogenomics in the era of next generation sequencing - from byte to bedside.

Russell LE; Zhou Y; Almousa AA; Sodhi JK; Nwabufo CK; Lauschke VM
Editorial comment: FRONTIERS IN GENETICS. 2021;12:736626

Editorial: Population Pharmacogenomics (PGx): From Variant Identification to Clinical Implementation.

Hiratsuka M; Zhou Y; Lauschke VM
Review: PHARMACOGENOMICS. 2020;21(18):1299-1310

Impact of variants in ATP-binding cassette transporters on breast cancer treatment.

Xiao Q; Zhou Y; Lauschke VM
Review: PHARMACOLOGY & THERAPEUTICS. 2019;197:122-152

Novel genetic and epigenetic factors of importance for inter-individual differences in drug disposition, response and toxicity.

Lauschke VM; Zhou Y; Ingelman-Sundberg M
Review: FRONTIERS IN PHARMACOLOGY. 2019;10:1093

Comprehensive Evaluation of Organotypic and Microphysiological Liver Models for Prediction of Drug-Induced Liver Injury.

Zhou Y; Shen JX; Lauschke VM
Review: FRONTIERS IN PHARMACOLOGY. 2018;9:1437

Computational Methods for the Pharmacogenetic Interpretation of Next Generation Sequencing Data.

Zhou Y; Fujikura K; Mkrtchian S; Lauschke VM
Conference publication: BASIC & CLINICAL PHARMACOLOGY & TOXICOLOGY. 2018;123:5

AN OPTIMIZED PREDICTION FRAMEWORK TO ASSESS THE FUNCTIONAL IMPACT OF PHARMACOGENETIC VARIANTS

Zhou Y; Mkrtchian S; Kumondai M; Hiratsuka M; Lauschke V
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Grants

Precision Medicine by personalized dosing of capecitabine and tamoxifen in breast cancer – advanced pharmacogene sequencing, phenotype markers and modeling of patient-unique genetic variants

Cancerfonden

Employments

Postdoctoral Researcher, Department of Physiology and Pharmacology, Karolinska Institutet, 2023-2025

Degrees and Education

Degree Of Doctor Of Philosophy, Department of Physiology and Pharmacology, Karolinska Institutet, 2021
Degree Of Master Of Medical Science 120 Credits, Karolinska Institutet, 2017

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