31 research outputs found

    The landscape of tolerated genetic variation in humans and primates

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    A922 Sequential measurement of 1 hour creatinine clearance (1-CRCL) in critically ill patients at risk of acute kidney injury (AKI)

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    The landscape of tolerated genetic variation in humans and primates.

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    Personalized genome sequencing has revealed millions of genetic differences between individuals, but our understanding of their clinical relevance remains largely incomplete. To systematically decipher the effects of human genetic variants, we obtained whole-genome sequencing data for 809 individuals from 233 primate species and identified 4.3 million common protein-altering variants with orthologs in humans. We show that these variants can be inferred to have nondeleterious effects in humans based on their presence at high allele frequencies in other primate populations. We use this resource to classify 6% of all possible human protein-altering variants as likely benign and impute the pathogenicity of the remaining 94% of variants with deep learning, achieving state-of-the-art accuracy for diagnosing pathogenic variants in patients with genetic diseases

    Pleonotoma Orientalis (bignoniaceae - Bignonieae): Expanded Description, Distribution And A New Variety Of A Poorly Known Species

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    Pleonotoma orientalis Sandwith (Bignoniaceae), a poorly known species, is lectotypified, illustrated for the first time and a distribution map is provided. Pleonotoma orientalis Sandwith var. ratteriana Proença & Farias from the Jalapão area (State of Tocantins, Central Brazil) is described and illustrated. The new variety is apparently identical to the typical variety in floral characters but distinct in its ternate-tripinnate leaves with numerous, minute, slightly thickened leaflets, and fruits with rounded or obtuse tips. The collections of this new variety increase its range c.400 km S from Northern Brazil (Maranhão and Pará) into Tocantins in Central Brazil. © Trustees of the Royal Botanic Garden (2007).6411723GENTRY, A.H., Bignoniaceae (1997) Flora of the Venezuelan Guyana, 3. , St Louis: Missouri Botanical Garden Press [published posthumouslyGOMES, B.M., (2006) Revisão de Pleonotoma Miers (Bignonieae, Bignoniaceae), , MSc thesis unpublished, Universidade de Brasília, BrasíliaHUMBOLDT, A., BONPLAND, A. & KUNTH, K. S. (1818). Nova genera et species plantarum 3, pp. 1-356, figs 193-300. ParisLOHMANN, L., Untangling the phylogeny of neotropical lianas (Bignonieae, Bignoniaceae) (2006) Amer. J. Bot, 93 (2), pp. 304-319MIERS, J., Report on the plants collected by Mr. Weir, especially the Bignoniaceae (1863) Proc. Roy. Hort. Soc. London, 3, pp. 179-202PROENÇA, C., SAMPAIO, A. B., SOARES E SILVA, L. H., MILHOMENS, L. C., SIMON, M. F., SIMPSON JR., P. L. & FARIAS, R. (2002). Relatório da Botânica. In: ARRUDA, M. B. & VON BEHR, M. (eds) Jalapão: Expedição Científica e Conservacionista, pp. 21-28. Brasília, Brazil: Edições Instituto Brasileiro do Meio Ambiente (IBAMA)SANDWITH, N.Y., Three new South American plants (1938) Brittonia, 3, pp. 92-94SANDWITH, N.Y., HUNT, D.R., Bignoniáceas (1974) Flora Ilustrada Catarinense, , REITZ, R, ed, Itajaí, Brazil: Herbário Barbosa Rodrigue

    PLEONOTOMA ORIENTALIS

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