277 research outputs found
Erast Parmasto 1928â2012 in memoriam
On April 24th Erast Parmasto died at the age of 83. He was the distinguished senior mycolo- gist in Tartu and an honorary member of various Mycological Societies.
VermehrungsfÀhigkeit von Hybridstreifenbarschen
Hybridstreifenbarsche (HSB) sind wertvolle Speisefische, die als aussichtsreiche Objekte der Aquakultur weltweit im Fokus stehen. Eine breite EinfĂŒhrung der Fische in der deutschen Aquakultur bedarf aber einer von Importen unabhĂ€ngigen Satzfischversorgung. Ziel des Projekts war es, HSB aus F1-Gebrauchshybriden zu vermehren. In mehreren FĂ€llen gelang eine Bruterzeugung, ohne dass jedoch die Rahmenbedingungen fixiert werden konnten, die eine sichere und reproduzierbare Brutgewinnung ermöglichen wĂŒrde. HSB werden sich deshalb nicht in groĂem Stil in der sĂ€chsischen Aquakultur etablieren. Von einer GefĂ€hrdung einheimischer Fischarten ist wegen der offensichtlich ĂŒberwiegenden, wenn auch nicht vollstĂ€ndigen SterilitĂ€t der Hybriden nicht auszugehen
Human and mouse essentiality screens as a resource for disease gene discovery
The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge. Here, we integrate measures of how essential a gene is to supporting life, as inferred from viability and phenotyping screens performed on knockout mice by the International Mouse Phenotyping Consortium and essentiality screens carried out on human cell lines. We propose a cross-species gene classification across the Full Spectrum of Intolerance to Loss-of-function (FUSIL) and demonstrate that genes in five mutually exclusive FUSIL categories have differing biological properties. Most notably, Mendelian disease genes, particularly those associated with developmental disorders, are highly overrepresented among genes non-essential for cell survival but required for organism development. After screening developmental disorder cases from three independent disease sequencing consortia, we identify potentially pathogenic variants in genes not previously associated with rare diseases. We therefore propose FUSIL as an efficient approach for disease gene discovery. Discovery of causal variants for monogenic disorders has been facilitated by whole exome and genome sequencing, but does not provide a diagnosis for all patients. Here, the authors propose a Full Spectrum of Intolerance to Loss-of-Function (FUSIL) categorization that integrates gene essentiality information to aid disease gene discovery
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