Masahiro Kanai, Ph.D.
Curriculum Vitae# mkanai@broadinstitute.org
 mkanai.github.io§ mkanai masakanai

Education
Harvard University
Boston, USA
Ph.D. in Biomedical Informatics
Aug. 2017–May 2022
Bioinformatics and Integrative Genomics Ph.D. Program, Harvard Medical School
Keio University
B.S. in Bioinformatics, Department of Biosciences and Informatics

Yokohama, Japan
Apr. 2013–Mar. 2017

Research Experience
Massachusetts General Hospital & Broad Institute of MIT and Harvard
Research Fellow, Center for Computational and Integrative Biology
Advisor: Dr. Ramnik Xavier
Research themes:○ Functional characterization of causal genetic variants○ Integration of multi-omics data for variant Interpretation

Boston, USA
Aug. 2022–present

Massachusetts General Hospital & Broad Institute of MIT and Harvard
Boston, USA
Graduate Student, Analytic and Translational Genetics Unit
Jan. 2018–May 2022
Advisors: Drs. Mark Daly & Hilary Finucane
Ph.D. thesis: Fine-mapping complex traits in large-scale biobanks across diverse populations
Osaka University Graduate School of Medicine
Osaka, Japan
Visiting Faculty, Department of Statistical Genetics
July 2022–present
Research Student, Department of Statistical Genetics
Apr. 2017–June 2022
Advisor: Dr. Yukinori Okada
Research themes:○ Genetic analysis of complex human diseases and traits in the Japanese population○ Eﬃcient visualization of high-dimentional multi-omics data
RIKEN Center for Integrative Medical Sciences
Yokohama, Japan
Research Assistant, Laboratory for Statistical Analysis
May 2015–Jul. 2019
Advisors: Drs. Yoichiro Kamatani & Yukinori Okada
Research themes:○ Genome-wide association study (GWAS) of ~200,000 individuals in the BioBank Japan Project○ Interpretation of GWAS polygenic signals using epigenomic data
○ Population genetics analysis of 1,037 Japanese whole-genome sequences
Keio University
Undergraduate Researcher, Laboratory for Bioinformatics
Advisor: Dr. Yasubumi Sakakibara
Bachelor thesis: Integrative multi-omics analysis of renal cell carcinoma

Yokohama, Japan
Apr. 2016–Mar. 2017

Curriculum Vitae

Masahiro Kanai, Ph.D.

Tokyo Medical and Dental University
Tokyo, Japan
Technical Assistant, Department of Human Genetics and Disease Diversity
Apr. 2014–Mar. 2016
Advisors: Drs. Yukinori Okada & Toshihiro Tanaka
Research themes:○ Empirical estimation of genome-wide signiﬁcance thresholds based on GWAS simulations○ HLA imputation analysis using the Japanese-speciﬁc reference panel

Certiﬁcation
The Certiﬁcation for Bioinformatics Engineerscertiﬁcated by the Japanese Society of Bioinformatics

2015

Awards and Fellowships
Reviewers’ Choice Abstract Award
The American Society of Human Genetics 2022 Annual Meeting

Los Angeles, USA
2022

Reviewers’ Choice Abstract Award
The American Society of Human Genetics 2021 Virtual Meeting

USA
2021

Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research
Finalist (Predoctoral), The American Society of Human Genetics 2020 Virtual Meeting

USA
2020

Reviewers’ Choice Abstract Award
The American Society of Human Genetics 2019 Annual Meeting

Houston, USA2019

Masason Foundation FellowshipResearch grant for cross-population analysis of complex human diseases and traits.

Tokyo, Japan2018–2023

Nakajima Foundation Fellowship
Predoctoral fellowship which covers up to ~$50,000/year for tuition and stipend.

Tokyo, Japan
2017–2022

The 3rd place, Worldwide Finals
Microsoft Imagine Cup 2011 Windows 7 Touch Challenge

New York, USA
2011

The 1st place, National Finals & Worldwide Finalist
Microsoft Imagine Cup 2010 Software Design Competition

Japan & Poland
2010

Publications
Selected Publications and Preprints. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
(* = co-ﬁrst)
1.

*Karczewski, K. J., *Gupta, R., *Kanai, M., Lu, W., Tsuo, K., ..., Finucane, H. K., Daly, M. J., Neale,
B. M., Atkinson, E. G. & Martin, A. R. Pan-UK Biobank GWAS improves discovery, analysis of geneticarchitecture, and resolution into ancestry-enriched eﬀects. medRxiv (2024).

2.

Kanai, M., Elzur, R., Zhou, W., Global Biobank Meta-analysis Initiative, Daly, M. J. & Finucane, H. K.
Meta-analysis ﬁne-mapping is often miscalibrated at single-variant resolution. Cell Genomics 2, 100210(2022).

3.

*Weissbrod, O., *Kanai, M., *Shi, H., Gazal, S., Peyrot, W. J., ..., Okada, Y., The Biobank Japan Project,
Martin, A. R., Finucane, H. K. & Price, A. L. Leveraging ﬁne-mapping and multipopulation training
data to improve cross-population polygenic risk scores. Nature Genetics 54, 450–458 (2022).

2

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Masahiro Kanai, Ph.D.

4.

Kanai, M., Ulirsch, J. C., Karjalainen, J., Kurki, M., Karczewski, K. J., ..., Tewhey, R., Sabeti, P. C., Okada,Y., Daly, M. J. & Finucane, H. K. Insights from complex trait ﬁne-mapping across diverse populations.
medRxiv (2021).

5.

*Sakaue, S., *Kanai, M., Tanigawa, Y., Karjalainen, J., Kurki, M., ..., Palotie, A., Rivas, M. A., Daly, M. J.,
Matsuda, K. & Okada, Y. A cross-population atlas of genetic associations for 220 human phenotypes.
Nature Genetics 53, 1415–1424 (2021).

6.

The COVID-19 Host Genetics Initiative. Mapping the human genetic architecture of COVID-19.
Nature 600, 472–477 (2021).

7.

*Sakaue, S., *Kanai, M., Karjalainen, J., Akiyama, M., Kurki, M., ..., Matsuda, K., Murakami, Y., Daly,
M. J., Kamatani, Y. & Okada, Y. Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan. Nature Medicine 26, 542–548(2020).

8.

Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M. & Daly, M. J. Clinical use of current
polygenic risk scores may exacerbate health disparities. Nature Genetics 51, 584–591 (2019).

9.

Kanai, M., Akiyama, M., Takahashi, A., Matoba, N., Momozawa, Y., ..., Hirata, M., Matsuda, K., Kubo,
M., Okada, Y. & Kamatani, Y. Genetic analysis of quantitative traits in the Japanese population links
cell types to complex human diseases. Nature Genetics 50, 390–400 (2018).

Other Preprints. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
10.

Finucane, H. K., Parsa, S., Guez, J., Kanai, M., Satterstrom, F. K., Nkambule, L. L., Daly, M. J., Seed, C. &Karczewski, K. J. Variant scoring performance across selection regimes depends on variant-to-geneand gene-to-disease components. bioRxiv (2024).

11.

Jacobs, H., Gorissen, B., Guez, J., Kanai, M., Finucane, H., Karczewski, K. & Burge, C. Widespreadnaturally variable human exons aid genetic interpretation. bioRxiv (2024).

12.

Zhou, W., Cuomo, A., Xue, A., Kanai, M., Chau, G., ..., Xavier, R. J., MacArthur, D. G., Powell, J. E.,
Daly, M. J. & Neale, B. M. Eﬃcient and accurate mixed model association tool for single-cell eQTL
analysis. medRxiv (2024).

13.

Rossen, J., Shi, H., Strober, B. J., Zhang, M. J., Kanai, M., McCaw, Z. R., Liang, L., Weissbrod, O. &Price, A. L. MultiSuSiE improves multi-ancestry ﬁne-mapping in All of Us whole-genome sequencing
data. medRxiv (2024).

14.

Siraj, L., Castro, R. I., Dewey, H., Kales, S., Nguyen, T. T. L., Kanai, M., ..., Sabeti, P. C., Finucane, H. K.,
Reilly, S. K., Ulirsch, J. C. & Tewhey, R. Functional dissection of complex and molecular trait variants
at single nucleotide resolution. bioRxiv (2024).

15.

The Psychiatric Genomics Consortium Major Depressive Disorder Working Group. Genome-wide
study of major depression in 685,808 diverse individuals identiﬁes 697 independent associations,
infers causal neuronal subtypes and biological targets for novel pharmacotherapies. medRxiv (2024).

16.

Koskela, J. T., Happola, P., Liu, A., FinnGen, Partanen, J., ..., Kanai, M., ..., Ganna, A., Palotie, A., Laitinen,T., Myllarniemi, M. & Daly, M. J. Genetic variant in SPDL1 reveals novel mechanism linking pulmonaryﬁbrosis risk and cancer protection. medRxiv (2021).

17.

Turley, P., Martin, A. R., Goldman, G., Li, H., Kanai, M., ..., Meyer, M. N., Cesarini, D., Daly, M., Benjamin,
D. J. & Neale, B. M. Multi-Ancestry Meta-Analysis yields novel genetic discoveries and ancestryspeciﬁc associations. bioRxiv (2021).

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Masahiro Kanai, Ph.D.

Other Publications. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
18.

Pozarickij, A., Gan, W., Lin, K., Clarke, R., Fairhurst-Hunter, Z., ..., Kanai, M., ..., Li, L., Chen, Z., Millwood, I. Y., Walters, R. G. & China Kadoorie Biobank Collaborative Group. Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisationin 100,000 Chinese adults. Nature Communications 15, 6265 (2024).

19.

Carey, C. E., Shafee, R., Wedow, R., Elliott, A., Palmer, D. S., ..., Kanai, M., ..., King, D., Davey Smith, G.,
Neale, B. M., Walters, R. K. & Robinson, E. B. Principled distillation of UK Biobank phenotype data
reveals underlying structure in human variation. Nature Human Behaviour 8, 1599–1615 (2024).

20.

Trsan, T., Peng, V., Krishna, C., Ohara, T. E., Beatty, W. L., ..., Kanai, M., ..., Jaiswal, A., Stappenbeck,
T. S., Daly, M. J., Xavier, R. J. & Colonna, M. The centrosomal protein FGFR1OP controls myosinfunction in murine intestinal epithelial cells. Developmental Cell 59, 2460–2476 (2024).

21.

Jermy, B., Läll, K., Wolford, B. N., Wang, Y., Zguro, K., ..., Kanai, M., ..., Palotie, A., Heyne, H., Mars, N.,
Ganna, A. & Ripatti, S. A uniﬁed framework for estimating country-speciﬁc cumulative incidence for
18 diseases stratiﬁed by polygenic risk. Nature Communications 15, 5007 (2024).

22.

Sakaue, S., Weinand, K., Isaac, S., Dey, K. K., Jagadeesh, K., Kanai, M., ..., McDavid, A., Donlin, L. T.,
Wei, K., Price, A. L. & Raychaudhuri, S. Tissue-speciﬁc enhancer–gene maps from multimodal singlecell data identify causal disease alleles. Nature Genetics 56, 615–626 (2024).

23.

De Vincentis, A., Tavaglione, F., Namba, S., Kanai, M., Okada, Y., ..., Pedone, C., Antonelli Incalzi, R.,
Valenti, L., Romeo, S. & Vespasiani-Gentilucci, U. Poor accuracy and sustainability of the ﬁrst-step
FIB4 EASL pathway for stratifying steatotic liver disease risk in the general population. Alimentary
Pharmacology & Therapeutics 59, 1402–1412 (2024).

24.

Lo Faro, V., Bhattacharya, A., Zhou, W., Zhou, D., Wang, Y., ..., Kanai, M., ..., Gamazon, E. R., Jansonius,
N. M., Joos, K., Cox, N. J. & Hirbo, J. Novel ancestry-speciﬁc primary open-angle glaucoma loci andshared biology with vascular mechanisms and cell proliferation. Cell Reports Medicine 5, 101430(2024).

25.

Scholz, M., Horn, K., Pott, J., Wuttke, M., Kühnapfel, A., ..., Kanai, M., ..., Franceschini, N., Parsa, A.,
Köttgen, A., Schlosser, P. & Pattaro, C. X-chromosome and kidney function: evidence from a multitrait genetic analysis of 908,697 individuals reveals sex-speciﬁc and sex-diﬀerential ﬁndings in genes
regulated by androgen response elements. Nature Communications 15, 586 (2024).

26.

Meng, X., Navoly, G., Giannakopoulou, O., Levey, D. F., Koller, D., ..., Kanai, M., ..., Dunn, E. C., Stein,
M. B., Gelernter, J., Lewis, C. M. & Kuchenbaecker, K. Multi-ancestry genome-wide association studyof major depression aids locus discovery, ﬁne mapping, gene prioritization and causal inference. Nature Genetics 56, 222–233 (2024).

27.

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., ..., Daly, M. J., Tiao, G., Neale, B. M.,
MacArthur, D. G. & Karczewski, K. J. A genomic mutational constraint map using variation in 76,156
human genomes. Nature 625, 92–100 (2024).

28.

Cui, R., Elzur, R. A., Kanai, M., Ulirsch, J. C., Weissbrod, O., Daly, M. J., Neale, B. M., Fan, Z. & Finucane,
H. K. Improving ﬁne-mapping by modeling inﬁnitesimal eﬀects. Nature Genetics 56, 162–169 (2024).

29.

Kerimov, N., Tambets, R., Hayhurst, J. D., Rahu, I., Kolberg, P., ..., Kanai, M., ..., Finucane, H., Peterson,
H., Mosaku, A., Parkinson, H. & Alasoo, K. eQTL Catalogue 2023: New datasets, X chromosome QTLs,
and improved detection and visualisation of transcript-level QTLs. PLoS Genetics 19, e1010932(2023).

30.

Wang, Y., Kanai, M., Tan, T., Kamariza, M., Tsuo, K., ..., BioBank Japan Project, Huang, H., Turley, P.,
Atkinson, E. G. & Martin, A. R. Polygenic prediction across populations is inﬂuenced by ancestry,
genetic architecture, and methodology. Cell Genomics 3, 100408 (2023).

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Masahiro Kanai, Ph.D.

31.

The COVID-19 Host Genetics Initiative. A second update on mapping the human genetic architecture of COVID-19. Nature 621, E7–E26 (2023).

32.

International League Against Epilepsy Consortium on Complex Epilepsies. GWAS meta-analysis ofover 29,000 people with epilepsy identiﬁes 26 risk loci and subtype-speciﬁc genetic architecture.
Nature Genetics 55, 1471–1482 (2023).

33.

Gupta, R., Kanai, M., Durham, T. J., Tsuo, K., McCoy, J. G., ..., Chinnery, P. F., Karczewski, K. J., Calvo,
S. E., Neale, B. M. & Mootha, V. K. Nuclear genetic control of mtDNA copy number and heteroplasmy
in humans. Nature 620, 839–848 (2023).

34. Kanai, M. Leveraging ﬁne-scale population structures for precision healthcare. Nature Medicine 29,1611–1612 (2023).
35.

Weeks, E. M., Ulirsch, J. C., Cheng, N. Y., Trippe, B. L., Fine, R. S., ..., Kanai, M., ..., Ardlie, K. G.,
Hirschhorn, J. N., Lander, E. S., Engreitz, J. M. & Finucane, H. K. Leveraging polygenic enrichmentsof gene features to predict genes underlying complex traits and diseases. Nature Genetics 55, 1267–
1276 (2023).

36.

Palmer, D. S., Zhou, W., Abbott, L., Wigdor, E. M., Baya, N., ..., Poterba, T., King, D., Kanai, M., Bloemendal, A. & Neale, B. M. Analysis of genetic dominance in the UK Biobank. Science 379, 1341–
1348 (2023).

37.

Ogawa, K., Tsoi, L. C., Tanaka, H., Kanai, M., Stuart, P. E., Nair, R. P., Tanaka, Y., Mochizuki, H., Elder,
J. T. & Okada, Y. A cross-trait genetic correlation study identiﬁed eight diseases and traits associatedwith psoriasis. Journal of Investigative Dermatology 143, 1813–1816.e2 (2023).

38.

Rämö, J. T., Kiiskinen, T., Seist, R., Krebs, K., Kanai, M., ..., Milani, L., Stankovic, K. M., Mäkitie, A.,
Daly, M. J. & Palotie, A. Genome-wide screen of otosclerosis in population biobanks: 27 loci andshared associations with skeletal structure. Nature Communications 14, 157 (2023).

39.

Kurki, M. I., Karjalainen, J., Palta, P., Sipilä, T. P., Kristiansson, K., ..., Kanai, M., ..., Plenge, R., McCarthy,
M., Runz, H., Daly, M. J. & Palotie, A. FinnGen provides genetic insights from a well-phenotyped
isolated population. Nature 613, 508–518 (2023).

40.

Wang, Y., Namba, S., Lopera, E., Kerminen, S., Tsuo, K., ..., Kanai, M., ..., Cox, N. J., Surakka, I., Okada,Y., Martin, A. R. & Hirbo, J. Global Biobank analyses provide lessons for developing polygenic risk
scores across diverse cohorts. Cell Genomics 3, 100241 (2023).

41.

Kanoni, S., Graham, S. E., Wang, Y., Surakka, I., Ramdas, S., ..., Kanai, M., ..., Natarajan, P., Deloukas, P.,
Willer, C. J., Assimes, T. L. & Peloso, G. M. Implicating genes, pleiotropy, and sexual dimorphism atblood lipid loci through multi-ancestry meta-analysis. Genome Biology 23, 268 (2022).

42.

Tsuo, K., Zhou, W., Wang, Y., Kanai, M., Namba, S., ..., Okada, Y., Neale, B. M., Global Biobank Metaanalysis Initiative, Daly, M. J. & Martin, A. R. Multi-ancestry meta-analysis of asthma identiﬁes novelassociations and highlights the value of increased power and diversity. Cell Genomics 2, 100212(2022).

43.

Zhou, W., Kanai, M., Wu, K.-H. H., Rasheed, H., Tsuo, K., ..., Zöllner, S., Martin, A. R., Willer, C. J.,
Daly, M. J. & Neale, B. M. Global Biobank Meta-analysis Initiative: Powering genetic discovery acrosshuman disease. Cell Genomics 2, 100192 (2022).

44.

Bhattacharya, A., Hirbo, J. B., Zhou, D., Zhou, W., Zheng, J., Kanai, M., The Global Biobank Metaanalysis Initiative, Pasaniuc, B., Gamazon, E. R. & Cox, N. J. Best practices for multi-ancestry, metaanalytic transcriptome-wide association studies: Lessons from the Global Biobank Meta-analysis Initiative. Cell Genomics 2, 100180 (2022).

45.

Yengo, L., Vedantam, S., Marouli, E., Sidorenko, J., Bartell, E., ..., Kanai, M., ..., Frayling, T. M., Okada,Y., Wood, A. R., Visscher, P. M. & Hirschhorn, J. N. A saturated map of common genetic variants
associated with human height. Nature 610, 704–712 (2022).
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46.

Wang, Q. S., Edahiro, R., Namkoong, H., Hasegawa, T., Shirai, Y., ..., Kanai, M., ..., Miyano, S., Ogawa,
S., Kanai, T., Fukunaga, K. & Okada, Y. The whole blood transcriptional regulation landscape in 465
COVID-19 infected samples from Japan COVID-19 Task Force. Nature Communications 13, 4830
(2022).

47.

Ruotsalainen, S. E., Surakka, I., Mars, N., Karjalainen, J., Kurki, M., Kanai, M., ..., Okada, Y., Palotie, A.,
Widen, E., Daly, M. J. & Ripatti, S. Inframe insertion and splice site variants in MFGE8 associate withprotection against coronary atherosclerosis. Communications Biology 5, 802 (2022).

48.

Namkoong, H., Edahiro, R., Takano, T., Nishihara, H., Shirai, Y., ..., Kanai, M., ..., Miyano, S., Ogawa, S.,
Kanai, T., Fukunaga, K. & Okada, Y. DOCK2 is involved in the host genetics and biology of severe
COVID-19. Nature 609, 754–760 (2022).

49.

Ramdas, S., Judd, J., Graham, S. E., Kanoni, S., Wang, Y., ..., Kanai, M., ..., Peloso, G., Assimes, T. L.,
Willer, C. J., Zhu, X. & Brown, C. D. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. The American Journal of Human Genetics 109, 1366–1387 (2022).

50.

The COVID-19 Host Genetics Initiative. A ﬁrst update on mapping the human genetic architectureof COVID-19. Nature 608, E1–E10 (2022).

51.

Winkler, T. W., Rasheed, H., Teumer, A., Gorski, M., Rowan, B. X., ..., Kanai, M., ..., Hung, A. M., Kronenberg, F., Köttgen, A., Pattaro, C. & Heid, I. M. Diﬀerential and shared genetic eﬀects on kidney
function between diabetic and non-diabetic individuals. Communications Biology 5, 580 (2022).

52.

Wang, Y., Tsuo, K., Kanai, M., Neale, B. M. & Martin, A. R. Challenges and Opportunities for Developing More Generalizable Polygenic Risk Scores. Annual Review of Biomedical Data Science 5, 293–320(2022).

53.

Mars, N., Kerminen, S., Feng, Y.-C. A., Kanai, M., Läll, K., ..., Pirinen, M., Palotie, A., Ganna, A., Martin,
A. R. & Ripatti, S. Genome-wide risk prediction of common diseases across ancestries in one million
people. Cell Genomics 2, 100118 (2022).

54.

Zheng, J., Zhang, Y., Rasheed, H., Walker, V., Sugawara, Y., ..., Kanai, M., ..., Barbour, S., Yu, C., Åsvold,
B. O., Zhang, H. & Gaunt, T. R. Trans-ethnic Mendelian-randomization study reveals causal relationships between cardiometabolic factors and chronic kidney disease. International Journal of Epidemiology 50, 1995–2010 (2022).

55.

Graham, S. E., Clarke, S. L., Wu, K.-H. H., Kanoni, S., Zajac, G. J. M., ..., Kanai, M., ..., Morris, A. P.,
Assimes, T. L., Deloukas, P., Sun, Y. V. & Willer, C. J. The power of genetic diversity in genome-wide
association studies of lipids. Nature 600, 675–679 (2021).

56.

Polygenic Risk Score Task Force of the International Common Disease Alliance. Responsible use ofpolygenic risk scores in the clinic: potential beneﬁts, risks and gaps. Nature Medicine 27, 1876–1884(2021).

57.

Luo, Y., Kanai, M., Choi, W., Li, X., Sakaue, S., ..., Esko, T., Okada, Y., Han, B., McLaren, P. J. & Raychaudhuri, S. A high-resolution HLA reference panel capturing global population diversity enables
multi-ancestry ﬁne-mapping in HIV host response. Nature Genetics 53, 1504–1516 (2021).

58.

Griesemer, D., Xue, J. R., Reilly, S. K., Ulirsch, J. C., Kukreja, K., ..., Kanai, M., ..., Montgomery, S. B.,
Finucane, H. K., Novina, C. D., Tewhey, R. & Sabeti, P. C. Genome-wide functional screen of 3’UTR
variants uncovers causal variants for human disease and evolution. Cell 184, 5247–5260.e19 (2021).

59.

Reilly, S. K., Gosai, S. J., Guiterrez, A., Ulirsch, J. C., Kanai, M., ..., Butler, G. B., Gladden-Young, A.,
Finucane, H. K., Sabeti, P. C. & Tewhey, R. Direct characterization of cis-regulatory elements andfunctional dissection of complex genetic associations using HCR–FlowFISH. Nature Genetics 53,
1166–1176 (2021).

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60.

Wang, Q. S., Kelley, D. R., Ulirsch, J., Kanai, M., Sadhuka, S., ..., Okada, Y., Aguet, F., Ardlie, K. G.,
MacArthur, D. G. & Finucane, H. K. Leveraging supervised learning for functionally informed ﬁnemapping of cis-eQTLs identiﬁes an additional 20,913 putative causal eQTLs. Nature Communications
12, 3394 (2021).

61.

Nakatochi, M., Toyoda, Y., Kanai, M., Nakayama, A., Kawamura, Y., ..., Yokota, M., Wakai, K., Okada,Y., Matsuo, H. & Japan Uric Acid Genomics Consortium (Japan Urate). An X chromosome-wide
meta-analysis based on Japanese cohorts revealed that non-autosomal variations are associated withserum urate. Rheumatology 60, 4430–4432 (2021).

62.

Pirastu, N., Cordioli, M., Nandakumar, P., Mignogna, G., Abdellaoui, A., ..., Kanai, M., ..., Neale, B. M.,
Walters, R. K., Nivard, M. G., Perry, J. R. B. & Ganna, A. Genetic analyses identify widespread sexdiﬀerential participation bias. Nature Genetics 53, 663–671 (2021).

63.

Shi, H., Gazal, S., Kanai, M., Koch, E. M., Schoech, A. P., ..., Huang, H., Okada, Y., Raychaudhuri, S.,
Sunyaev, S. R. & Price, A. L. Population-speciﬁc causal disease eﬀect sizes in functionally importantregions impacted by selection. Nature Communications 12, 1098 (2021).

64.

Atkinson, E. G., Maihofer, A. X., Kanai, M., Martin, A. R., Karczewski, K. J., ..., Finucane, H. K., Koenen,
K. C., Nievergelt, C. M., Daly, M. J. & Neale, B. M. Tractor uses local ancestry to enable the inclusionof admixed individuals in GWAS and to boost power. Nature Genetics 53, 195–204 (2021).

65.

Chen, M.-H., Raﬃeld, L. M., Mousas, A., Sakaue, S., Huﬀman, J. E., ..., Kanai, M., ..., Soranzo, N.,
Johnson, A. D., Reiner, A. P., Auer, P. L. & Lettre, G. Trans-ethnic and Ancestry-Speciﬁc Blood-Cell
Genetics in 746,667 Individuals from 5 Global Populations. Cell 182, 1198–1213.e14 (2020).

66.

Vuckovic, D., Bao, E. L., Akbari, P., Lareau, C. A., Mousas, A., ..., Kanai, M., ..., Butterworth, A. S.,
Ouwehand, W. H., Lettre, G., Sankaran, V. G. & Soranzo, N. The Polygenic and Monogenic Basis of
Blood Traits and Diseases. Cell 182, 1214–1231.e11 (2020).

67.

Shirai, Y., Honda, S., Ikari, K., Kanai, M., Takeda, Y., ..., Morisaki, T., Tanaka, E., Kumanogoh, A., Harigai,
M. & Okada, Y. Association of the RPA3-UMAD1 locus with interstitial lung diseases complicatedwith rheumatoid arthritis in Japanese. Annals of the Rheumatic Diseases 79, 1305–1309 (2020).

68.

Ishigaki, K., Akiyama, M., Kanai, M., Takahashi, A., Kawakami, E., ..., Inazawa, J., Yamauchi, T., Kadowaki, T., Kubo, M. & Kamatani, Y. Large-scale genome-wide association study in a Japanese population identiﬁes novel susceptibility loci across diﬀerent diseases. Nature Genetics 52, 669–679(2020).

69.

Sakaue, S., Hirata, J., Kanai, M., Suzuki, K., Akiyama, M., ..., Hirata, M., Matsuda, K., Murakami, Y.,
Kamatani, Y. & Okada, Y. Dimensionality reduction reveals ﬁne-scale structure in the Japanese population with consequences for polygenic risk prediction. Nature Communications 11, 1569 (2020).

70.

Ray, J. P., de Boer, C. G., Fulco, C. P., Lareau, C. A., Kanai, M., ..., Issner, R., Finucane, H. K., Lander,
E. S., Regev, A. & Hacohen, N. Prioritizing disease and trait causal variants at the TNFAIP3 locus
using functional and genomic features. Nature Communications 11, 1237 (2020).

71.

Matoba, N., Akiyama, M., Ishigaki, K., Kanai, M., Takahashi, A., ..., Matsuda, K., Murakami, Y., Kubo,
M., Kamatani, Y. & Okada, Y. GWAS of 165,084 Japanese individuals identiﬁed nine loci associatedwith dietary habits. Nature Human Behaviour 4, 308–316 (2020).

72.

Clark, D. W., Okada, Y., Moore, K. H. S., Mason, D., Pirastu, N., ..., Kanai, M., ..., Helgason, A., Stefansson, K., Joshi, P. K., Kubo, M. & Wilson, J. F. Associations of autozygosity with a broad range ofhuman phenotypes. Nature Communications 10, 4957 (2019).

73.

Leu, C., Stevelink, R., Smith, A. W., Goleva, S. B., Kanai, M., ..., Najm, I. M., Palotie, A., Daly, M. J.,
Busch, R. M. & Lal, D. Polygenic burden in focal and generalized epilepsies. Brain 142, 3473–3481(2019).

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Curriculum Vitae

Masahiro Kanai, Ph.D.

74.

Tin, A., Marten, J., Halperin Kuhns, V. L., Li, Y., Wuttke, M., ..., Kanai, M., ..., Teumer, A., Pattaro, C.,
Woodward, O. M., Vitart, V. & Köttgen, A. Target genes, variants, tissues and transcriptional pathways
inﬂuencing human serum urate levels. Nature Genetics 51, 1459–1474 (2019).

75.

Akiyama, M., Ishigaki, K., Sakaue, S., Momozawa, Y., Horikoshi, M., ..., Kanai, M., ..., Yamamoto, M.,
Okada, Y., Murakami, Y., Kubo, M. & Kamatani, Y. Characterizing rare and low-frequency heightassociated variants in the Japanese population. Nature Communications 10, 4393 (2019).

76.

Wuttke, M., Li, Y., Li, M., Sieber, K. B., Feitosa, M. F., ..., Kanai, M., ..., Heid, I. M., Scholz, M., Teumer,
A., Köttgen, A. & Pattaro, C. A catalog of genetic loci associated with kidney function from analysesof a million individuals. Nature Genetics 51, 957–972 (2019).

77.

*Nakatochi, M., *Kanai, M., *Nakayama, A., *Hishida, A., *Kawamura, Y., ..., Shinomiya, N., Yokota,
M., Wakai, K., Okada, Y. & Matsuo, H. Genome-wide meta-analysis identiﬁes multiple novel lociassociated with serum uric acid levels in Japanese individuals. Communications Biology 2, 115 (2019).

78.

Matoba, N., Akiyama, M., Ishigaki, K., Kanai, M., Takahashi, A., ..., Hirata, M., Matsuda, K., Kubo, M.,
Okada, Y. & Kamatani, Y. GWAS of smoking behaviour in 165,436 Japanese people reveals seven
new loci and shared genetic architecture. Nature Human Behaviour 3, 471–477 (2019).

79.

Suzuki, K., Akiyama, M., Ishigaki, K., Kanai, M., Hosoe, J., ..., Kubo, M., Kamatani, Y., Horikoshi, M.,
Yamauchi, T. & Kadowaki, T. Identiﬁcation of 28 new susceptibility loci for type 2 diabetes in theJapanese population. Nature Genetics 51, 379–386 (2019).

80.

Hirata, J., Hosomichi, K., Sakaue, S., Kanai, M., Nakaoka, H., ..., Momozawa, Y., Inoue, I., Kubo, M.,
Kamatani, Y. & Okada, Y. Genetic and phenotypic landscape of the major histocompatibilty complex
region in the Japanese population. Nature Genetics 51, 470–480 (2019).

81. Kanai, M., Maeda, Y. & Okada, Y. Grimon: graphical interface to visualize multi-omics networks.
Bioinformatics 34, 3934–3936 (2018).
82.

Horikoshi, M., Day, F. R., Akiyama, M., Hirata, M., Kamatani, Y., ..., Kanai, M., ..., Ojeda, S. R., Lomniczi,
A., Kubo, M., Ong, K. K. & Perry, J. R. B. Elucidating the genetic architecture of reproductive ageingin the Japanese population. Nature Communications 9, 1977 (2018).

83.

Okada, Y., Momozawa, Y., Sakaue, S., Kanai, M., Ishigaki, K., ..., Matsuda, K., Yamamoto, K., Kubo, M.,
Hirose, N. & Kamatani, Y. Deep whole-genome sequencing reveals recent selection signatures linked
to evolution and disease risk of Japanese. Nature Communications 9, 1631 (2018).

84.

Malik, R., Chauhan, G., Traylor, M., Sargurupremraj, M., Okada, Y., ..., Kanai, M., ..., Markus, H. S.,
Howson, J. M. M., Kamatani, Y., Debette, S. & Dichgans, M. Multiancestry genome-wide association
study of 520,000 subjects identiﬁes 32 loci associated with stroke and stroke subtypes. Nature
Genetics 50, 524–537 (2018).

85.

Hirata, J., Hirota, T., Ozeki, T., Kanai, M., Sudo, T., ..., Sato, S., Mushiroda, T., Saeki, H., Tamari, M. &Okada, Y. Variants at HLA-A , HLA-C , and HLA-DQB1 confer risk of psoriasis vulgaris in Japanese.
Journal of Investigative Dermatology 138, 542–548 (2018).

86.

Akiyama, M., Okada, Y., Kanai, M., Takahashi, A., Momozawa, Y., ..., Minegishi, N., Tsugane, S., Yamamoto, M., Kubo, M. & Kamatani, Y. Genome-wide association study identiﬁes 112 new loci forbody mass index in the Japanese population. Nature Genetics 49, 1458–1467 (2017).

87.

Sudo, T., Okada, Y., Ozaki, K., Urayama, K., Kanai, M., Kobayashi, H., Gokyu, M., Izumi, Y. & Tanaka,
T. Association of NOD2 Mutations with Aggressive Periodontitis. Journal of Dental Research 96,
1100–1105 (2017).

88.

Okada, Y., Suzuki, A., Ikari, K., Terao, C., Kochi, Y., ..., Kanai, M., ..., Raychaudhuri, S., Matsuda, F.,
Yamanaka, H., Kamatani, Y. & Yamamoto, K. Contribution of a Non-classical HLA Gene, HLA-DOA,
to the Risk of Rheumatoid Arthritis. The American Journal of Human Genetics 99, 366–374 (2016).
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Curriculum Vitae

Masahiro Kanai, Ph.D.

89. Kanai, M., Tanaka, T. & Okada, Y. Empirical estimation of genome-wide signiﬁcance thresholds basedon the 1000 Genomes Project data set. Journal of Human Genetics 61, 861–866 (2016).
90.

Okada, Y., Muramatsu, T., Suita, N., Kanai, M., Kawakami, E., Iotchkova, V., Soranzo, N., Inazawa, J. &Tanaka, T. Signiﬁcant impact of miRNA–target gene networks on genetics of human complex traits.
Scientiﬁc Reports 6, 22223 (2016).

91.

Okada, Y., Momozawa, Y., Ashikawa, K., Kanai, M., Matsuda, K., Kamatani, Y., Takahashi, A. & Kubo,
M. Construction of a population-speciﬁc HLA imputation reference panel and its application to
Graves’ disease risk in Japanese. Nature Genetics 47, 798–802 (2015).

Reviews (in Japanese). . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.

Kanai, M. Genetic analysis of quantitative traits with integration of multi-omics data. The Medical
Frontline (SAISHIN IGAKU) 74, 220–226 (2019).

2.

Kanai, M., Okada, Y. & Kamatani, Y. Genetics of clinical measurements in the Japanese population:
large-scale genome-wide association study of 58 quantitative traits. Clinical Immunology & Allergology 71, 78–85 (2019).

3.

Kanai, M., Okada, Y. & Kamatani, Y. Large-scale genome-wide association study in the Japanese
population elucidates genetic backgrounds of 58 quantitative traits. Life Science First Author’s Review(2018).

4.

Kanai, M. & Okada, Y. Identiﬁcation of genetic loci associated with chronic kidney disease andapplications for drug development. Kidney and Metabolic Bone Diseases 31, 19–26 (2018).

5.

Kanai, M. & Okada, Y. HLA imputation: construction of a population-speciﬁc reference panel inJapanese. Journal of Clinical and Experimental Medicine (IGAKU NO AYUMI) 257, 939–940 (2016).

Presentations
International Conference. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.

Kanai, M., Ulirsch, J. C., Karjalainen, J., Kurki, M., Ishigaki, K., Kamatani, Y., Reilly, S., Sabeti, P., Tewhey,
R., FinnGen, Okada, Y., Daly, M. J. & Finucane, H. K. Insights into ﬁne-mapping causal variants ofcomplex traits from diverse populations. The 70th Annual Meeting of the American Society of Human
Genetics, Plenary Session (2020).

2.

Kanai, M., Ulirsch, J. C., McCaw, Z. R., Albors, C., Fan, Z., Ishigaki, K., Karjalainen, J., Kurki, M.,
FinnGen, Kamatani, Y., Okada, Y., Daly, M. J. & Finucane, H. K. Cross-population ﬁne-mapping of 50
complex traits and diseases in 675,000 individuals across three global biobanks. The 69th Annual
Meeting of the American Society of Human Genetics, Poster Session (2019).

3.

Kanai, M., Akiyama, M., Okada, Y., Ikeda, M., Iwata, N., Kubo, M. & Kamatani, Y. Trans-ethnic comparison of partitioned heritability reveals shared cell-type speciﬁc enrichment between East Asianand European genome-wide association studies. The 66th Annual Meeting of the American Society of
Human Genetics, Poster Session (2016).

4.

Kanai, M., Tanaka, T. & Okada, Y. Empirical estimation of genome-wide signiﬁcance thresholds basedon the 1000 Genomes Project. The 13th International Congress of Human Genetics, Oral Session(2016).

5.

Kanai, M., Okada, Y., Muramatsu, T., Suita, N., Kawakami, E., Iotchkova, V., Soranzo, N., Inazawa, J. &Tanaka, T. Signiﬁcant impact of miRNA–target gene networks on genetics of human complex traits.
The 13th International Congress of Human Genetics, Oral Session (2016).

9

Curriculum Vitae

Masahiro Kanai, Ph.D.

Domestic Conference (in Japan). . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
1.

Kanai, M., Tanaka, T. & Okada, Y. Empirical estimation of a genome-wide signiﬁcance threshold basedon the 1000 Genomes Project. The 60th Annual Meeting of the Japan Society of Human Genetics, Oral
Session (2015).

2.

Kanai, M., Yamane, K., Higuchi, C., Tanaka, T. & Okada, Y. Performance evaluation of PLINK v.1.90: anext version of a tool set for genome-wide association study. The 59th Annual Meeting of the Japan
Society of Human Genetics, Poster Session (2014).
Last updated: September 24, 2024.

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