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生命医科学研究センターゲノム解析応用研究チーム

チームリーダー寺尾知可史（M.D., Ph.D）

English Page

研究概要

当研究チームは臨床応用を目標に自己免疫性疾患、血液疾患、悪性腫瘍を代表に幅広い疾患や形質を対象として、遺伝統計学・ゲノム疫学・機械学習(主に深層学習)のアプローチを用いてゲノム解析を行っています。定性的・定量的に決定されたDNA・RNA配列、SNP/SNVや構造多型を代表とした遺伝多型、エピゲノムなどのゲノム情報とそれらの解析から得られる膨大かつ多層的な情報をゲノム以外の情報と統合し、疾病や形質のメカニズムの解明・マネジメントの改善・治療法の開発へとつなげ、患者さんや社会に還元することを目指します。

研究主分野

医歯薬学

研究関連分野

生物学
人類遺伝学
遺伝・染色体動態
疫学・予防医学

キーワード

遺伝学
トランスレーショナルリサーチ
応用遺伝学
統計遺伝学
機械学習・深層学習

主要論文

1. Terao C^*, Suzuki A, Momozawa Y, Akiyama M, Ishigaki K, Yamamoto K, Matsuda K, Murakami Y, McCarroll SA, Kubo M, Loh PR, Kamatani Y.:
"Chromosomal alterations among age-related hematopoietic clones in Japan."
Nature. 2020 Jun 24 DOI: 10.1038/s41586-020-2426-2
2. Liu X, Takata S, Ashikawa K, Aoi T, Kosugi S, Terao C, Parrish NF, Matsuda K, Nakagawa H, Kamatani Y, Kubo M, Momozawa Y.:
"Prevalence and Spectrum of Pathogenic Germline Variants in Japanese Patients With Early-Onset Colorectal, Breast, and Prostate Cancer."
JCO Precision Oncology. 2020 :4, 183-191
3. Nakabo S, Tsuji Y, Inagaki M, Tsuji H, Nakajima T, Murakami K, Terao C, Hashimoto M, Furu M, Tanaka M, Ito H, Fujii T, Mimori T, Fujii Y.:
"Severe joint deformity and Patient Global Assessment of Disease are associated with discrepancies between sonographic and clinical remission: A cross-sectional study of rheumatoid arthritis patients."
Mod Rheumatol. 2020 Apr 3:1-23.
4. Sakai K, Tanikawa C, Hirasawa A, Chiyoda T, Yamagami W, Kataoka F, Susumu N, Terao C, Kamatani Y, Takahashi A, Momozawa Y, Hirata M, Kubo M, Fuse N, Takai-Igarashi T, Shimizu A, Fukushima A, Kadota A, Arisawa K, Ikezaki H, Wakai K, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Aoki D, Matsuda K.:
"Identification of a novel uterine leiomyoma GWAS locus in a Japanese population."
Sci Rep. 2020 Jan 27;10(1):1197. doi: 10.1038/s41598-020-58066-8.
5. Thompson DJ, Genovese G, Halvardson J, Ulirsch JC, Wright DJ, Terao C, Davidsson OB, Day FR, Sulem P, Jiang Y, Danielsson M, Davies H, Dennis J, Dunlop MG, Easton DF, Fisher VA, Zink F, Houlston RS, Ingelsson M, Kar S, Kerrison ND, Kinnersley B, Kristjansson RP, Law PJ, Li R, Loveday C, Mattisson J, McCarroll SA, Murakami Y, Murray A, Olszewski P, Rychlicka-Buniowska E, Scott RA, Thorsteinsdottir U, Tomlinson I, Moghadam BT, Turnbull C, Wareham NJ, Gudbjartsson DF; International Lung Cancer Consortium (INTEGRAL-ILCCO); Breast Cancer Association Consortium; Consortium of Investigators of Modifiers of BRCA1/2; Endometrial Cancer Association Consortium; Ovarian Cancer Association Consortium; Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) Consortium; Kidney Cancer GWAS Meta-Analysis Project; eQTLGen Consortium; Biobank-based Integrative Omics Study (BIOS) Consortium; 23andMe Research Team, Kamatani Y, Hoffmann ER, Jackson SP, Stefansson K, Auton A, Ong KK, Machiela MJ, Loh PR, Dumanski JP, Chanock SJ, Forsberg LA, Perry JRB.:
"Genetic predisposition to mosaic Y chromosome loss in blood."
Nature. 2019 Nov;575(7784):652-657.
6. Howles SA, Wiberg A, Goldsworthy M, Bayliss AL, Gluck AK, Ng M, Grout E, Tanikawa C, Kamatani Y, Terao C, Takahashi A, Kubo M, Matsuda K, Thakker RV, Turney BW, Furniss D.:
"Genetic variants of calcium and vitamin D metabolism in kidney stone disease."
Nat Commun. 2019 Nov 15;10(1):5175.
7. Terao C^*, Momozawa Y, Ishigaki K, Kawakami E, Akiyama M, Loh PR, Genovese G, Sugishita H, Ohta T, Hirata M, Perry JRB, Matsuda K, Murakami Y, Kubo M, Kamatani Y.:
"GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation."
Nat Commun. 2019 Oct 17;10(1):4719. doi: 10.1038/s41467-019-12705-5.
8. Terao C, Brynedal B, Chen Z, Jiang X, Westerlind H, Hansson M, Jakobsson PJ, Lundberg K, Skriner K, Serre G, Rönnelid J, Mathsson-Alm L, Brink M, Dahlqvist SR, Padyukov L, Gregersen PK, Barton A, Alfredsson L, Klareskog L, Raychaudhuri S.:
"Distinct HLA Associations with Rheumatoid Arthritis Subsets Defined by Serological Subphenotype."
Am J Hum Genet. 2019 Sep 5;105(3):616-624.
9. Ishikawa Y, Ikari K, Hashimoto M, Ohmura K, Tanaka M, Ito H, Taniguchi A, Yamanaka H, Mimori T, Terao C^*.:
"Shared epitope defines distinct associations of cigarette smoking with levels of anticitrullinated protein antibody and rheumatoid factor."
Ann Rheum Dis. 2019 Nov;78(11):1480-1487.
10. Kosugi S, Momozawa Y, Liu X, Terao C, Kubo M, Kamatani Y.:
"Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing."
Genome Biol. 2019 Jun 3;20(1):117. doi: 10.1186/s13059-019-1720-5.