大量並行シーケンスによるゲノムアッセイ

2013 Fiscal Year Annual Research Report

• Project Area: Integral understanding of the mechanism of transcription cycle through quantitative, high-resolution approaches
• Project/Area Number: 24118007
• Research Institution: Yokohama City University
• Principal Investigator: 松本 直通 横浜市立大学, 医学(系)研究科(研究院), 教授 (80325638)
• Co-Investigator(Kenkyū-buntansha): 三宅 紀子 横浜市立大学, 医学部, 准教授 (40523494)
• Project Period (FY): 2012-06-28 – 2017-03-31
• Keywords: ゲノム / 発現制御 / 次世代シーケンス

Research Abstract

種々の次世代シーケンサー（NGS）を効率的に用いて転写サイクルの解明に資するゲノムアッセイを行う。イルミナ社GAIIx・HiSeq2000・Miseq、ライフテクノロジー社Ion PGM・Ion Proton (新規導入)による網羅的なゲノムアッセイに関する技術開発および解析を行う。スタンダードタイプNGS（GAIIx・Hiseq）の高出力性とパーソナルタイプNGS（Miseq・Ion PGM）は低コスト性・高スピード性、そして両方の利点を備えたIon Protonを組み合わせた効果的な解析を行う。確実な実験系（ウェット）とインフォーマティクス系（ドライ）を効果的に融合させ、機能的なゲノムアッセイと、疾患ゲノム解析による転写サイクル関連因子の異常探索を行い、転写サイクル（異常）に関わる生命現象の解明を目指すことを目的に研究を展開した。導入した新規次世代シーケンサー（半導体シーケンサー）の解析フローの確立：高出力型半導体シーケンサーIon Protonを導入した。本シーケンサーにおける、安定的かつ効率的なWetおよびDryの解析方法を検討し安定的にデータ産出が可能であることを確認した。インフォーマティクス解析としてBWAやNovoalignを用いて網羅的かつ効率的な解析フローを確立した。多サンプル処理用のインデキシング技術を最大限利用しスタンダードタイプとデスクトップタイプのシーケンサー出力の最大の解析効率を引き出すことが可能であった。転写サイクル機構の異常が関与する疾患の探索としてBAF複合体異常が原因で発症するCoffin-Siris症候群の解析を進めBAF複合体以外の遺伝子Aの異常を特定した。遺伝子AとBAF複合体の関連性について他の研究グループから報告がありCoffin-Siris症候群がやはりBAF複合体関連異常であることが証明された。

Current Status of Research Progress

2: Research has progressed on the whole more than it was originally planned.

Reason

種々の次世代シーケンサー（NGS）を効率的に用いて転写サイクルの解明に資するゲノムアッセイを行う。イルミナ社GAIIx・HiSeq2000・Miseq、ライフテクノロジー社Ion PGM・Ion Proton (新規導入)による網羅的なゲノムアッセイに関する技術開発および解析を行う。スタンダードタイプNGS（GAIIx・Hiseq）の高出力性とパーソナルタイプNGS（Miseq・Ion PGM）は低コスト性・高スピード性、そして両方の利点を備えたIon Protonを組み合わせた効果的な解析を行う。確実な実験系（ウェット）とインフォーマティクス系（ドライ）を効果的に融合させ、機能的なゲノムアッセイと、疾患ゲノム解析による転写サイクル関連因子の異常探索を行い、転写サイクル（異常）に関わる生命現象の解明を目指すことを目的に研究を展開した。新規導入したIon Protonと既に保有しているIon PGMは同一原理を（半導体を用いたパイロシーケンス）用いておりシーケンス特性が他のシーケンサーと異なるため、それに適合するインフォーマティクス解析系を用いてデータ処理を行い適切なデータを入手することが可能であった。さらに転写調節に関連の深いBAF複合体遺伝子異常が原因で引き起こされるCoffin-Siris症候群の解析を精力的に進めた。この過程で新たな原因遺伝子Aの異常が明らかになったが、他の研究グループがこの遺伝子AとBAF複合体の間の機能的関係が明らかにした。BAF複合体異常が引き起こすCoffin-Siris症候群の解析を通じた転写関連異常の一群が明らかになりつつある。

Strategy for Future Research Activity

導入した半導体シーケンサーの高出力タイプのチップの発売が計画されている。このチップが出るとIon Protonシーケンサーの解析コストがかなり軽減されるため、一気に解析環境が改善されると期待される。本シーケンサーをさらに利用し研究推進につなげていきたい。またCoffin-Siris症候群の解析をさらに推進し、新たな新規遺伝子解明を行いBAF複合体異常との関連を明らかにし転写サイクル研究に新たな視点を提供したい。

Research Products

• [Journal Article] AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes. (2014)
  • Author(s): *Nakamura K, Kato M, Tohyama J, Shiohama T, Hayasaka K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
  • Journal Title: Clin Genet Volume: 85（4） Pages: 396-8
  • DOI: 10.1111/cge.12188.
  • Peer Reviewed
• [Journal Article] Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. (2014)
  • Author(s): Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, *Matsumoto N.
  • Journal Title: Am J Med Genet Part A Volume: 164 Pages: 231-236
  • DOI: 10.1002/ajmg.a.36228.
  • Peer Reviewed
• [Journal Article] Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations. (2014)
  • Author(s): *Takanashi JI, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M, Nomura Y, Terao Y, Inoue K, Matsumoto N, Barkovich JA.
  • Journal Title: Brain Dev Volume: 36 Pages: 259-263
  • DOI: 10.1016/j.braindev.2013.03.006
  • Peer Reviewed
• [Journal Article] A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. (2014)
  • Author(s): Nakamura K, Jinnou H, Yokochi K, Okanishi T, Enoki H, Ohki S, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake M, Matsumoto N, Saitsu H*.
  • Journal Title: Brain Dev Volume: 36 Pages: 272-273
  • DOI: 10.1016/j.braindev.2013.03.007
  • Peer Reviewed
• [Journal Article] Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage? (2014)
  • Author(s): Kutuk MS, Balta B, Kodera H, Matsumoto N, Saitsu H, Doganay S, Canpolat M, Dolanbay M, Unal E, Dundar M.
  • Journal Title: Childs Nerv Syst Volume: 30 Pages: 419-424
  • DOI: 10.1007/s00381-013-2338-7.
  • Peer Reviewed
• [Journal Article] A hemizygous GYG2 mutation causes Leigh syndrome. (2014)
  • Author(s): Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E・Hideo Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N.
  • Journal Title: Hum Genet Volume: 133 Pages: 225-234
  • DOI: 10.1007/s00439-013-1372-6
  • Peer Reviewed
• [Journal Article] Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. (2013)
  • Author(s): *Miyake N#, Yano S# (# denotes equal contribution), Sakai C, Hatakeyama H, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Saitsu H, Ogata K, Goto Y, *Matsumoto N (*: corresponding).
  • Journal Title: Hum Mut Volume: 34 Pages: 446-452
  • DOI: 10.1002/humu.22257
  • Peer Reviewed
• [Journal Article] De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. (2013)
  • Author(s): *Saitsu H#, Nishimura T#, Muramatsu K# (# denotes equal contribution), Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, *Mizushima, *Matsumoto N (*: co-corresponding).
  • Journal Title: Nat Genet Volume: 45 Pages: 445-449
  • DOI: 10.1038/ng.2562
  • Peer Reviewed
• [Journal Article] Essential role of the IRF8-KLF4 transcription factor cascade in the monocyte differentiation program. (2013)
  • Author(s): Kurotaki D, Osato N, Nishiyama A, Yamamoto M, Sato H, Nakabayashi J, Ban T, Miyake N, Matsumoto N, Nakazawa M, Ozato K, *Tamura T.
  • Journal Title: Blood Volume: 121 Pages: 1839-1849
  • DOI: 10.1182/blood-2012-06-437863
  • Peer Reviewed
• [Journal Article] Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. (2013)
  • Author(s): Nakajima M,# Mizumoto S,# Miyake N,# (# denotes equal contribution) et al., Matsumoto N, et al.
  • Journal Title: Am J Hum Genet Volume: 92 Pages: 927-934
  • DOI: 10.1038/ng.2562
  • Peer Reviewed
• [Journal Article] Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. (2013)
  • Author(s): Nishiguchi KM, Tearle RG, Liu Y, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma T, Beckmann JS, Ikegawa I, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C.
  • Journal Title: Proc Natl Acad Sci USA Volume: 110 Pages: 16139-16144
  • DOI: 10.1073/pnas.1308243110
  • Peer Reviewed
• [Journal Article] Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. (2013)
  • Author(s): Ravenscroft G#, Miyatake S# (# denotes the first authors with equal contribution), et al., Miyake N, et al., *Matsumoto N§, *Laing NG§ (§ denotes equal contribution as the last author)
  • Journal Title: Am J Hum Genet Volume: 93 Pages: 6-18
  • DOI: 10.1016/j.ajhg.2013.05.004.
  • Peer Reviewed
• [Journal Article] MLL2 and KDM6A mutations and their clinical consequences in Kabuki syndrome. (2013)
  • Author(s): *Miyake N, et al., *Matsumoto N, Niikawa N.
  • Journal Title: Am J Med Genet Part A Volume: 161 Pages: 2234-2243
  • DOI: 10.1002/ajmg.a.36072
  • Peer Reviewed
• [Journal Article] De novo mutations in GNAO1 encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. (2013)
  • Author(s): #Nakamura K, #Kodera H, #Akita T (# denotes equal contribution), et al., Miyake N, et al., *Matsumoto N, *Saitsu H (* denotes co-correspondence)
  • Journal Title: Am J Hum Genet Volume: 93 Pages: 496-505
  • DOI: 10.1016/j.ajhg.2013.07.014
  • Peer Reviewed
• [Journal Article] Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy. (2013)
  • Author(s): Gupta VA, et al., Matsumoto N, et al.
  • Journal Title: Am J Hum Genet Volume: 93 Pages: 1108-1117
  • DOI: 10.1016/j.ajhg.2013.10.020
  • Peer Reviewed
• [Journal Article] A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. (2013)
  • Author(s): Miyatake S, Murakami A, Okamoto N, Miyake N, Saitsu H, *Matsumoto N.
  • Journal Title: Am J Med Genet Part A Volume: 161A Pages: 1073-1077
  • DOI: 10.1002/ajmg.a.35661.
  • Peer Reviewed
• [Journal Article] A novel homozygous SCARB2 mutation causes late-onset progressive myoclonus epilepsy without renal failure. (2013)
  • Author(s): Higashiyama Y, *Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N.
  • Journal Title: Mov disord Volume: 28 Pages: 552-553
  • DOI: 10.1002/mds.25296.
  • Peer Reviewed
• [Journal Article] Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition Microphthalmia with Limb Anomalies-like. (2013)
  • Author(s): Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, *Matsumoto N.
  • Journal Title: Am J Med Genet Part A Volume: 161A Pages: 1543-1546
  • DOI: 10.1002/ajmg.a.35983.
  • Peer Reviewed
• [Journal Article] Pathogenic mutations in two families with congenital cataract identified by whole-exome sequencing. (2013)
  • Author(s): Kondo Y, Saitsu H, Miyamoto T, Lee BJ, Nishiyama K, Mitsuko Nakashima1, Tsurusaki Y, Doi H, Miyake N, Kim JH, Yu YS, *Matsumoto N.
  • Journal Title: Mol Vis Volume: 19 Pages: 384-389
  • Peer Reviewed
• [Journal Article] A case of Toriello-Carey syndrome with severe congenital tracheal stenosis. (2013)
  • Author(s): Yokoo N, Marumo C, Nishida Y, Iio J, Maeda S, Nonaka M, Maihara T, Chujoh S, Katayama T, Sakazaki H, Matsumoto N, Okamoto N.
  • Journal Title: Am J Med Genet Part A Volume: 161 Pages: 2291-2293
  • DOI: 10.1002/ajmg.a.35861.
  • Peer Reviewed
• [Journal Article] Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. (2013)
  • Author(s): Nakamura K, et al., Miyake N, et al., *Matsumoto N, *Saitsu H (* denotes co-corresponding).
  • Journal Title: Neurology Volume: 81 Pages: 992-998
  • DOI: 10.1212/WNL.0b013e3182a43e57
  • Peer Reviewed
• [Journal Article] Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder. (2013)
  • Author(s): Koshimizu E#, Miyatake S# (# denotes equal contribution), Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
  • Journal Title: Plos One Volume: 8 Pages: e74167
  • DOI: 10.1371/journal.pone.0074167
  • Peer Reviewed
• [Journal Article] Co-occurrence of 22q11 deletion syndrome and HDR Syndrome. (2013)
  • Author(s): Fukai R, Ochi N, Murakamia A, Nakashima M, Tsurusakia Y, Saitsu H, *Matsumoto N, *Miyake N.
  • Journal Title: Am J Med Genet Part A Volume: 161 Pages: 2576-2581
  • DOI: 10.1002/ajmg.a.36083.
  • Peer Reviewed
• [Journal Article] Clinical consequences of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. (2013)
  • Author(s): *Kosho T, et al., Miyake N, *Matsumoto N (*: co-corresponding).
  • Journal Title: Am J Med Genet Part A Volume: 161 Pages: 1221-1237
  • DOI: 10.1002/ajmg.a.35933
  • Peer Reviewed
• [Journal Article] Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia. (2013)
  • Author(s): Iida A, Nobuhiko Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N,* Ikegawa S.
  • Journal Title: J Hum Genet Volume: 58 Pages: 391-394
  • DOI: 10.1038/jhg.2013.25.
  • Peer Reviewed
• [Journal Article] Target capture sequencing for detection of mutations and copy number changes causing early-onset epileptic encephalopathy. (2013)
  • Author(s): Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nododa Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King M-C, Matsumoto N, *Saitsu H.
  • Journal Title: Epilepsia Volume: 54 Pages: 1262-1269
  • DOI: 10.1111/epi.12203
  • Peer Reviewed
• [Journal Article] Y-Chromosome-linked B- and NK-cell deficiency in mice. (2013)
  • Author(s): Sun S-L, Horino S, Itoh-Nakadai A, Kawabe T, Asao A, Takahashi T, So T, Ryo Funayama R, Kondo M, Saitsu H, Matsumoto N, Nakayama K, Ishii N*.
  • Journal Title: J Immunol Volume: 190 Pages: 6209-6220
  • DOI: 10.4049/jimmunol.1300303.
  • Peer Reviewed
• [Journal Article] Diagnostic utility of exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia: identification of a novel homozygous SPG7 mutation. (2013)
  • Author(s): *Doi H, Ohba C, Tsurusaki Y, Miyake N, Saitsu H, Miyatake S, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N.
  • Journal Title: Intern Med Volume: 52 Pages: 1629-1633
  • Peer Reviewed
• [Journal Article] A Unique Case of de novo 5q33.3q34 Triplication with Uniparental Isodisomy of 5q34qter. (2013)
  • Author(s): Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, *Matsumoto N,*Miyake N.
  • Journal Title: Am J Med Genet Part A Volume: 161 Pages: 1904-1909
  • DOI: 10.1002/ajmg.a.36026.
  • Peer Reviewed
• [Journal Article] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. (2013)
  • Author(s): Kodera H#, Nakamura K# (# denotes equal contribution), Osaka H, Maegaki Y,Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Mitsuko Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, *Matsumoto N, *Saitsu H (*: co-corresponding).
  • Journal Title: Hum Mut Volume: 34 Pages: 1708-1714
  • DOI: 10.1002/humu.22446.
  • Peer Reviewed
• [Journal Article] Diagnostic utility of whole exome sequencing in cerebellar atrophy in childhood. (2013)
  • Author(s): Ohba C, Osaka H, Iai M, Yamashita S, Suzuki S, Aida N, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence).
  • Journal Title: Neurogenet Volume: 14 Pages: 225-232
  • DOI: 10.1007/s10048-013-0375-8.
  • Peer Reviewed
• [Journal Article] A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia syndrome. (2013)
  • Author(s): Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusakia Y, Saitsu H, Kawashima H, *Matsumoto N, *Miyake N (*: co-correspondence).
  • Journal Title: J Hum Genet Volume: 58 Pages: 822-824
  • DOI: 10.1038/jhg.2013.104.
  • Peer Reviewed
• [Journal Article] Clinical spectrum of early-onset epileptic encephalopathies caused by KCNQ2 mutations. (2013)
  • Author(s): *Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weise S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kadera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, *Saitsu H.
  • Journal Title: Epilepsia Volume: 54 Pages: 1282-1287
  • DOI: 10.1111/epi.12200
  • Peer Reviewed
• [Presentation] Mendelian Exome Analysis
  • Author(s): Naomichi Matsumoto
  • Organizer: The 10th International Workshop on Advanced Genomics
  • Place of Presentation: National Center of Sciences, Tokyo
  • Invited
• [Presentation] De novo mutations in the autophagy gene encoding WDR45 (WIPI4) cause static encephalopathy of childhood with neurodegeneration in adulthood
  • Author(s): N. Matsumoto, T. Nishimura, K. Muramatsu, H. Kodera, S. Kumada, K. Sugai, E. Kasai-Yoshida, N. Sawaura, H. Nishida, A. Hoshino, F. Ryujin, S. Yoshioka, H. Arakawa, M. Kato, N. Mizushima, H. Saitsu
  • Organizer: European Conference of Human Genetic 2013
  • Place of Presentation: Palais des Congrès, Paris, France
• [Presentation] 次世代シーケンサーを用いてわかってきたこと
  • Author(s): 松本直通
  • Organizer: 第17回小児分子内分泌研究会
  • Place of Presentation: 札幌北広島クラッセホテル・北海道
  • Invited
• [Presentation] 疾患ゲノム解析における次世代シーケンサーの有用性
  • Author(s): 松本直通
  • Organizer: 第20回日本遺伝子診療学会大会
  • Place of Presentation: アクトシティ―浜松コングレスセンター・静岡県浜松市
  • Invited
• [Presentation] 次世代シーケンサーを用いた疾患ゲノム解析
  • Author(s): 松本直通
  • Organizer: CiRA genomics epigenomics and bioinformatics seminar series VIII
  • Place of Presentation: CiRA京都大学・京都府京都市
  • Invited
• [Presentation] NGSがもたらしたヒト疾患ゲノム解析のパラダイムシフト
  • Author(s): 松本直通
  • Organizer: 現場の会第三回研究会
  • Place of Presentation: 神戸国際会議場・兵庫県神戸市
  • Invited
• [Presentation] 次世代シーケンサーを用いた疾患ゲノム解析：現状と限界
  • Author(s): 松本直通
  • Organizer: 第22回発達腎研究会
  • Place of Presentation: 高槻市生涯学習センター・大阪府高槻市
  • Invited
• [Presentation] 次世代シーケンス解析で分かってきたこと
  • Author(s): 松本直通
  • Organizer: 第18回山形小児神経研究会
  • Place of Presentation: パレスグランデール・山形県山形市
  • Invited
• [Presentation] ヒト疾患エクソーム解析の現状と課題
  • Author(s): 松本直通
  • Organizer: 第58回日本人類遺伝学会大会
  • Place of Presentation: 江陽グランドホテル仙台・宮城県仙台市
• [Presentation] 希少疾患・難病の全エクソーム解析-現状と課題-
  • Author(s): 松本直通
  • Organizer: 日経バイオテク「希少疾患・難病の治療薬開発におけるゲノム活用」
  • Place of Presentation: 秋葉原コンベンションホ―ル・東京
  • Invited
• [Patent(Industrial Property Rights)] ミトコンドリア複合体III欠乏症患者又は保因者の検出方法 (2014)
  • Inventor(s): 松本直通/三宅紀子
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: PCT/JP2013/71620
  • Filing Date: 2014-02-07
• [Patent(Industrial Property Rights)] Coffin-Siris症候群の新規遺伝子診断法 (2013)
  • Inventor(s): 鶴崎美徳/松本直通
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 特願2013-252720
  • Filing Date: 2013-12-06
• [Patent(Industrial Property Rights)] ケトン血症を伴うリー脳症患者または保因者の検出法 (2013)
  • Inventor(s): 松本直通/三宅紀子
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 特願2013-157339
  • Filing Date: 2013-07-31
• [Patent(Industrial Property Rights)] 小児期のてんかんおよび不随意運動をきたす疾患の検出方法 (2013)
  • Inventor(s): 才津浩智/松本直通
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 特願2013-123660
  • Filing Date: 2013-06-12