58 research outputs found
近世の流通システムと産業組織:宿駅と酒造業の経済的機能に関する考察
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- Publication venue
- Publication date
- 01/01/2016
- Field of study
A second generation human haplotype map of over 3.1 million SNPs
- Author
- Abecasis GR
- Adebamowo CA
- Adewole IF
- Ajayi I
- Altshuler D
- Altshuler D
- Altshuler D
- An D
- Aniagwu T
- Auton A
- Ballinger DG
- Barrett J
- Barry R
- Bellemare G
- Belmont JW
- Belmont JW
- Bentley DR
- Bird CP
- Birren BW
- Blumenstiel B
- Bottolo L
- Boudreau A
- Brooks LD
- Burton J
- Cai D
- Camargo A
- Cardin N
- Cardon LR
- Carter NP
- Chagnon F
- Chakravarti A
- Chee MS
- Chen PE
- Chen Z
- Chretien YR
- Chu X
- Clarke G
- Clayton EW
- Clee CM
- Collins FS
- Cox DR
- Cutler DJ
- Daly MJ
- Daly MJ
- de Bakker PI
- Defelice M
- Delgado M
- Deloukas P
- Dermitzakis ET
- Dixon M
- Donnelly P
- Evans DM
- Eyheramendy S
- Faggart M
- Fan JB
- Feolo M
- Ferretti V
- Foster MW
- Frazer KA
- Freeman C
- Fu H
- Fukushima Y
- Fulton LL
- Gabriel SB
- Gabriel SB
- Galver LM
- Gao Y
- Gibbs RA
- Gibbs RA
- Godbout M
- Goyette M
- Griffiths M
- Guan W
- Gunderson K
- Gupta S
- Guyer MS
- Gwilliam R
- Han H
- Hardenbol P
- He Y
- Hinds DA
- Holden AL
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- Hu W
- Huang W
- Hudson TJ
- Hunt S
- Jamieson R
- Jin L
- Jones MC
- Kang L
- Kashuk CS
- Kato K
- Kawaguchi T
- Kennedy K
- Kent A
- Kitamoto T
- Knoppers BM
- Koboldt DC
- Krishnan L
- Kwok PY
- L'Archevêque P
- Leal SM
- Leboeuf M
- Leppert MF
- Li C
- Li Q
- Li Y
- Lin S
- Lin W
- Liu S
- Liu Y
- Macer DR
- Mak W
- Maller J
- Marchini J
- Marshall PA
- Matsuda I
- McCarroll S
- McEwen JE
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- Morris AP
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- Ohnishi Y
- Oliphant AR
- Olivier JF
- Onofrio RC
- Onofrio RC
- Pan H
- Parkin M
- Pasternak S
- Patterson N
- Pawlikowska L
- Pe'er I
- Peiffer A
- Peterson JL
- Phillips MS
- Plumb RW
- Powell D
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- Wang H
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- Whittaker P
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- Wilson RK
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- Wong JT
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- Xiong X
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- Xue H
- Yakub I
- Yang H
- Yao Z
- Yu F
- Yu J
- Zacharia LF
- Zeng C
- Zeng C
- Zhang B
- Zhang H
- Zhang Q
- Zhao H
- Zhao H
- Zhao H
- Zhou J
- Ziaugra L
- Ziaugra L
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2007
- Field of study
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r(2) of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r(2) of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10-30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. We show that recombination rates vary systematically around genes and between genes of different function. Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/62863/1/nature06258.pd
Pan-cancer analysis of whole genomes
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- The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium View Correspondence (jump link)
- Thiessen
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- Zhang H. b
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- Publication venue
- Publication date
- 11/12/2019
- Field of study
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe
Alternative splicing: the pledge, the turn, and the prestige
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- A Ivanov
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- A Krämer
- A Malamitsi-Puchner
- A Mankodi
- A Pawellek
- A Peri
- A Sureau
- A Sveen
- A Zaghlool
- A. C. Leote
- AA Melton
- AD Norris
- AG Matera
- AGL Douglas
- AJ Linares
- AJ Ward
- AJ Westermann
- AJ Westermann
- AL Shaffer
- AM Muise
- AN Brooks
- AN Kuhn
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- AV Chee
- B Chabot
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- C Holland
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- C Kress
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- CA Turner Jr
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- DD Licatalosi
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- DJ Elliott
- DO Bates
- DP Hughes
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- M Ajiro
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- M Fardilha
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- M Hafner
- M Irimia
- M Ladomery
- M Llorian
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- M. C. Bordone
- MA Garcia-Blanco
- MA Havens
- MA Havens
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- MB Coelho
- MB Warf
- MD Diaz-Muñoz
- MF Krummel
- MG Rosenfeld
- MG Rosenfeld
- MJ Benson
- MJ Mallory
- MJ Moore
- MK Oaks
- MK O’Bryan
- MM Scotti
- MP Paronetto
- MP Paronetto
- MR Cookson
- MR Lerner
- MS Anderson
- N Charlet-B
- N Droin
- N Hamada
- N Iwamori
- N Keppetipola
- N Martínez-Montiel
- N-T Chiou
- N. L. Barbosa-Morais
- N. Saraiva-Agostinho
- NA Olshavsky
- NL Barbosa-Morais
- NM Martinez
- NN Singh
- NS Foulkes
- O Anczuków
- O Anczuków
- O Kelemen
- O Muhlemann
- O Rossbach
- P Early
- P Early
- P Tucker
- PA Merwe van der
- PC Beverley
- PC Beverley
- PD Stenson
- PL Boutz
- PW Gunning
- Q Li
- R Aprianto
- R Arch
- R Ashwal-Fluss
- R Benabdillah
- R Jia
- R Karni
- R Klinck
- R Lambrot
- R Reed
- R Schmid
- R Spellman
- R Sperling
- RA Padgett
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- RP House
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- S Alsafadi
- S Berto
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- SF Nagueh
- SM Berget
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- SM Rueter
- SM Weyn-Vanhentenryck
- SP Wongpalee
- SV Graham
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- T Hermann
- T Iijima
- T Iijima
- T Nojima
- T Stiewe
- TH Ho
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- 'Springer Science and Business Media LLC'
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- Field of study
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- Publication venue
- 'American Institute of Mathematical Sciences (AIMS)'
- Publication date
- 01/01/2018
- Field of study
- …