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A large collection of human genomes from Sardinia is reported in three linked papers that implicate new genetic variants in the regulation of height, blood lipids, inflammatory markers and hemoglobin levels. These analyses provide new insight into disease susceptibility and evolution in isolated human populations and illuminate the genetics of complex phenotypes.
Journal requirements for data deposition and encouragement of deposition of preprints in a community preprint server are stated policy. Because many authors put data in a public repository only upon publication and many still ask about the status of preprints, here is a further statement of our position.
The reference human genome assembly is remarkable in its completeness and usefulness in research. However, the range of allelic variation in the human population is not well described by a haploid assembly with a profusion of alternative loci. Homozygous regions and the use of multiple sequencing technologies increasingly have roles in strategies for identifying regulatory and trait-associated variation.
From the Human Genome Organization (HUGO) onward, there has been a desire to get together to talk about using our shared genomic heritage to improve human health and development. We now have all the organizations we need and should collaborate on multiple practical demonstrations of the usefulness of genomic knowledge—be it human, animal or plant—for human health.
A considerable proportion of the usefulness and interest of research publications in our field comes from the data and associated metadata. We therefore insist that data be available for peer reviewers to see and readers to use. Authors should use public permanent repositories designed for appropriately consented data.
Paul Flicek and colleagues provide an update on the European Genome-phenome Archive (EGA), a service of the European Bioinformatics Institute (EMBL-EBI) and the Center for Genome Regulation (CRG). The authors describe the EGA policies and infrastructure, how access decisions are made, methods for data submission and future plans for expansion of this database.
We offer to publish Analyses of genomic and phenotypic data that present new concepts and strategies for the improvement of crop plant yield and nutritional value via the introduction, selection and use of genetic variation within the context of changes in markets, climate, water use and agronomic practices.
