human genetics

3 August 2020 A woman with glasses holds a book. The book cover says "Gene naming rules". Thought bubbles float around her head and display gene symbols like BRCA1.

Bagpipe and Pokemon, or how not to name a human gene

Science, Science & Technology The human genome harbours about 19 000 protein-coding genes, many of which still have no known function. As scientists unveil the secrets of our DNA, they come across novel genes that they need to refer to using a unique name. The Human Genome Organisation’s Gene Nomenclature Committee (HGNC) at…



31 October 2012

Spot the difference

Science, Science & Technology In a nutshell: 1st map combining human genetic variation at different scales – from single letters to large chunks Based on genomes of 1092 healthy people from Europe, the Americas and East Asia Could help identify genetic causes of disease, rather than just links Data made freely available in…



27 October 2010

1000 Genomes Project ushers in new era for human genetics

Science The 1000 Genomes Project, a major international collaboration to build a detailed map of human genetic variation, has completed its pilot phase. The results are now published in the journal Nature and freely available through the European Molecular Biology Laboratory’s European Bioinformatics…



1 April 2010 Each of these large images of dividing cells is composed of several microscopy images of human cells in which different individual genes were silenced. The smaller images are placed according to genes’ effects: images for genes that affect chromosomes make up the chromosomes (red/pink), while the mitotic spindle (green) is composed of images for genes that affect it. IMAGE: Thomas Walter & Mayumi Isokane / EMBL

Movies for the human genome

Science Name a human gene, and you’ll find a movie online showing you what happens to cells when it is switched off. This is the resource that researchers at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, and their collaborators in the Mitocheck consortium are making freely…



18 March 2010

What makes us unique? Not only our genes

Science Once the human genome was sequenced in 2001, the hunt was on for the genes that make each of us unique. But scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, and Yale and Stanford Universities in the USA, have found that we differ from each other mainly because…



14 June 2007

New findings challenge established views about human genome

Science The ENCyclopedia Of DNA Elements (ENCODE), an international research consortium organised by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), today published the results of its exhaustive, four-year effort to build a “parts list” of…



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