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  • The International Mouse Phenotyping Consortium reports the generation of new mouse mutant strains for more than 5,000 genes, including 2,850 novel null, 2,987 novel conditional-ready and 4,433 novel reporter alleles.

    • Marie-Christine Birling
    • Atsushi Yoshiki
    • Stephen A. Murray
  • We present the Polygenic Score (PGS) Catalog ( ), an open resource of published scores (including variants, alleles and weights) and consistently curated metadata required for reproducibility and independent applications. The PGS Catalog has capabilities for user deposition, expert curation and programmatic access, thus providing the community with a platform for PGS dissemination, research and translation.

    • Samuel A. Lambert
    • Laurent Gil
    • Michael Inouye
  • The National Cancer Institute (NCI) Genomic Data Commons (GDC) contains more than 2.9 petabytes of genomic and associated clinical data from more than 60 NCI-funded and other contributed cancer genomics research projects. The GDC consists of five applications over a common data model and a common application programming interface.

    • Allison P. Heath
    • Vincent Ferretti
    • Robert L. Grossman
  • Here, we argue that, in line with the dramatic increase in the collection, storage and curation of human genomic data for biomedical research, genomic data repositories and consortia have adopted governance frameworks to both enable wide access and protect against possible harms. However, the merits and limitations of different governance frameworks in achieving these twin aims are a matter of ongoing debate in the scientific community; indeed, best practices and points for consideration are notably absent in devising governance frameworks for genomic databases. According to our collective experience in devising and assessing governance frameworks, we identify five key functions of ‘good governance’ (or ‘better governance’) and three areas in which trade-offs should be considered when specifying policies within those functions. We apply these functions as a benchmark to describe, as an example, the governance frameworks of six large-scale international genomic projects.

    • Kieran C. O’Doherty
    • Mahsa Shabani
    • Wylie Burke
  • The emergence of the COVID-19 pandemic has spurred a global rush to uncover basic biological mechanisms to inform effective vaccine and drug development. Despite the novelty of the virus, global sequencing efforts have already identified genomic variation across isolates. To enable easy exploration and spatial visualization of the potential implications of SARS-CoV-2 mutations in infection, host immunity and drug development, we have developed COVID-3D ( ).

    • Stephanie Portelli
    • Moshe Olshansky
    • David B. Ascher
  • The WashU Virus Genome Browser is a web-based portal for efficient visualization of viral ‘omics’ data in the context of a variety of annotation tracks and host infection responses. The browser features both a phylogenetic-tree-based view and a genomic-coordinate, track-based view in which users can analyze the sequence features of viral genomes, sequence diversity among viral strains, genomic sites of diagnostic tests, predicted immunogenic epitopes and a continuously updated repository of publicly available genomic datasets.

    • Jennifer A. Flynn
    • Deepak Purushotham
    • Ting Wang
  • The UCSC SARS-CoV-2 Genome Browser ( ) is an adaptation of our popular genome-browser visualization tool for this virus, containing many annotation tracks and new features, including conservation with similar viruses, immune epitopes, RT–PCR and sequencing primers and CRISPR guides. We invite all investigators to contribute to this resource to accelerate research and development activities globally.

    • Jason D. Fernandes
    • Angie S. Hinrichs
    • Maximilian Haeussler
  • Standardized gene naming is crucial for effective communication about genes, and as genomics becomes increasingly important in health care, the need for a consistent language to refer to human genes becomes ever more essential. Here, we present the current HUGO Gene Nomenclature Committee (HGNC) guidelines for naming not only protein-coding genes but also RNA genes and pseudogenes, and we outline the changes in approach and ethos that have resulted from the discoveries of the past few decades.

    • Elspeth A. Bruford
    • Bryony Braschi
    • Susan Tweedie
  • Genetic discrimination is one of the most pervasive challenges resulting from research and development in human genetics. To collaboratively study and prevent this ethical issue, we established an international Genetic Discrimination Observatory comprising a network of researchers and stakeholders from more than 19 jurisdictions.

    • Yann Joly
    • Gratien Dalpé
    • Yvonne Bombard
  • The African Orphan Crops Consortium promotes the strategic, genome-enabled improvement of under-researched crops for biodiversity-based, nutritious food solutions in Africa. The African Plant Breeding Academy empowers the continent’s plant breeders to apply advanced genetic approaches and shared genetic solutions to the task of tailoring the immense diversity of underutilized crops to the needs of Africa’s producers, processors and consumers.

    • Ramni Jamnadass
    • Rita H. Mumm
    • Allen Van Deynze
  • The 11th International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opportunities for, Africans living with rare diseases. The following ICORD Global Call to Action, developed in collaboration with the International Rare Diseases Research Consortium, synthesizes the outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health.

    • Gareth S. Baynam
    • Stephen Groft
    • Manuel Posada
  • Ancestral and geographical issues underlie the need to develop Africa-specific guidelines for the return of genomics research results in Africa. In this Commentary, we outline the challenges that will inform policies and practices in the future.

    • Ambroise Wonkam
    • Jantina de Vries
  • A fundamental problem in rare-disease diagnostics is the lack of consensus as to which genes have sufficient evidence to attribute causation. To address this issue, we have created PanelApp ( ), a publicly available knowledge base of curated virtual gene panels.

    • Antonio Rueda Martin
    • Eleanor Williams
    • Ellen M. McDonagh
  • A generic framework for providing participant information and implementing a tiered consent process for health genomic research in Africa can help to harness global health benefits from sharing and meta-analysis of African genomic data while simultaneously respecting and upholding the autonomy and individual choices of African research participants.

    • Victoria Nembaware
    • Katherine Johnston
    • Nicki Tiffin
  • To increase the utility of Gene Ontology (GO) annotations for interpretation of genome-wide experimental data, we have developed GO-CAM, a structured framework for linking multiple GO annotations into an integrated model of a biological system. We expect that GO-CAM will enable new applications in pathway and network analysis, as well as improve standard GO annotations for traditional GO-based applications.

    • Paul D. Thomas
    • David P. Hill
    • Christopher J. Mungall
  • The Nordic region, comprising primarily Denmark, Estonia, Finland, Iceland, Norway and Sweden, has many of the necessary characteristics for being at the forefront of genome-based precision medicine. These include egalitarian and universal healthcare, expertly curated patient and population registries, biobanks, large population-based prospective cohorts linked to registries and biobanks, and a widely embraced sense of social responsibility that motivates public engagement in biomedical research. However, genome-based precision medicine can be achieved only through coordinated action involving all actors in the healthcare sector. Now is an opportune time to organize scientists in the Nordic region, together with other stakeholders including patient representatives, governments, pharmaceutical companies, academic institutions and funding agencies, to initiate a Nordic Precision Medicine Initiative. We present a roadmap for how this organization can be created. The Initiative should facilitate research, clinical trials and knowledge transfer to meet regional and global health challenges.

    • Pål Rasmus Njølstad
    • Ole Andreas Andreassen
    • Kári Stefánsson