| 1. |
- Weinstein, John N., et al.
(författare)
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The cancer genome atlas pan-cancer analysis project
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:10, s. 1113-1120
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Forskningsöversikt (refereegranskat)abstract
- The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile. © 2013 Nature America, Inc. All rights reserved.
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| 2. |
- Okada, Yukinori, et al.
(författare)
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Genetics of rheumatoid arthritis contributes to biology and drug discovery
- 2014
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Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; 506:7488, s. 376-381
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Tidskriftsartikel (refereegranskat)abstract
- A major challenge in human genetics is to devise a systematic strategy to integrate disease-associated variants with diverse genomic and biological data sets to provide insight into disease pathogenesis and guide drug discovery for complex traits such as rheumatoid arthritis (RA)(1). Here we performed a genome-wide association study meta-analysis in a total of >100,000 subjects of European and Asian ancestries (29,880 RA cases and 73,758 controls), by evaluating similar to 10 million single-nucleotide polymorphisms. We discovered 42 novel RA risk loci at a genome-wide level of significance, bringing the total to 101 (refs 2-4). We devised an in silico pipeline using established bioinformatics methods based on functional annotation(5), cis-acting expression quantitative trait loci(6) and pathway analyses(7-9)-as well as novel methods based on genetic overlap with human primary immunodeficiency, haematological cancer somatic mutations and knockout mouse phenotypes-to identify 98 biological candidate genes at these 101 risk loci. We demonstrate that these genes are the targets of approved therapies for RA, and further suggest that drugs approved for other indications may be repurposed for the treatment of RA. Together, this comprehensive genetic study sheds light on fundamental genes, pathways and cell types that contribute to RA pathogenesis, and provides empirical evidence that the genetics of RA can provide important information for drug discovery.
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| 3. |
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| 4. |
- Ballantyne, Kaye N., et al.
(författare)
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Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
- 2014
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 35:8, s. 1021-1032
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Tidskriftsartikel (refereegranskat)abstract
- Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
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| 5. |
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| 6. |
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| 7. |
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| 8. |
- Kondratyuk, Sergij Y, et al.
(författare)
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A Revised taxonomy for the subfamily Caloplacoideae (Teloschistaceae, Ascomycota) based on molecular phylogeny
- 2014
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Ingår i: Acta Botanica Hungarica. - 1588-2578. ; 56:1-2, s. 93-123
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Tidskriftsartikel (refereegranskat)abstract
- Seven strongly supported clades, characterised by molecular, morphological and anatomical characters are described as new genera: Eilifdahlia, Elenkiniana, Franwilsia, Huneckia, Marchantiana, Mikhtomia and Yoshimuria. Two new species, Eilifdahlia wirthii from South Africa and Marchantiana maulensis from Chile are described, illustrated and compared with closely related taxa.
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| 9. |
- Kondratyuk, Sergij. Y., et al.
(författare)
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A Revised taxonomy for the subfamily Xanthorioideae (Teloschistaceae, Ascomycota) based on molecular phylogeny
- 2014
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Ingår i: Acta Botanica Hungarica. - 1588-2578. ; 56:1-2, s. 141-178
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Tidskriftsartikel (refereegranskat)abstract
- The phylogeny of the subfamily Xanthorioideae (Teloschistaceae) is re-analysed based on ITS, LSU and mtSSU sequences, including a new set of specimens representing 31 genera, of which five are proposed as new: Golubkovia, Igneoplaca, Langeottia, Scythioria and Verrucoplaca. Two new species, Ovealmbornia volkmarwirthii from South Africa and Gondwania sejongensis from Antarctica are described, illustrated and compared with closely related taxa. Eleven new combinations are proposed in the genera Calogaya, Cerothallia, Flavoplaca, Gondwania, Igneoplaca, Scythioria and Verrucoplaca, but the status of four earlier established genera, Pachypeltis, Parvoplaca, Solitaria and Xanthopeltis, remains uncertain and needs further studies.
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| 10. |
- Kondratyuk, Sergey Y., et al.
(författare)
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Four new genera of teloschistoid lichens (Teloschistaceae, Ascomycota) based on molecular phylogeny.
- 2013
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Ingår i: Acta Botanica Hungarica. - 1588-2578. ; 55:3-4, s. 251-274
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Tidskriftsartikel (refereegranskat)abstract
- Four new monophyletic groups are found within the teloschistoid clade of the subfamily Xanthorioideae in the Teloschistaceae using nuclear (ITS1/ITS2) and mitochondrial (12S mtSSU gene) DNA sequences. These groups are proposed as new genera: Brownliella gen. nova for the widely distributed Caloplaca cinnabarina group, Filsoniana gen. nova for the Australian Ca loplaca australiensis group, Fulgogasparrea gen. nova for the Western Pacific species Caloplaca decipioides, and Kaernefia gen. nova for the Southern Hemisphere Caloplaca kaernefeltii group. Massalongo’s genus Niorma is resurrected for the Teloschistes hypoglaucus group.
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