This presentation provided an overview about the hCNV community, implementation studies and ongoing work, e.g. interaction with the GA4GH VRS standard group and Beacon development.
2022-03-15: more ...
The Progenetix oncogenomics resource provides sample-specific cancer genome profiling data and biomedical annotations as well as provenance data for cancer studies. With more than 100k genomic copy number number (CNV) profiles from over 700 cancer types, Progenetix empowers comparative analyses beyond individual studies and diagnostic concepts.
2021-09-22: more ...
During the “Federating computational analyses with GA4GH standards” workshop at
BC2 2021 Michael presented history and the current status of the Beacon
project, as well as its integration with specific data resources and analysis initiatives.
2021-09-13: more ...
This poster presentation at the European Society of Human Genetics meeting 2021 discusses the integration and development of GA4GH standards by the Progenetix oncogenomics resource.
2021-08-31: more ...
2021-08-03: more ...
At the Human Data Day Michael presents a very brief overview of the ending and upcoming ELIXIR hCNV implementation studies.
2021-06-11: more ...
This presentation gives a brief overview of the use of the Progenetix resource to test and implement a genomics reference resource using the emerging Beacon v2 protocol.
2021-06-08: more ...
This seminar gives an overview of current state of the Progenetix Beacon project and the overall connection to the Global Alliance for Genomics and Health (GA4GH).
2021-04-20: more ...
This seminar gives an overview of the history & current state of the Progenetix resource, it’s role in Beacon API development and the overall connection to the Global Alliance for Genomics and Health (GA4GH).
2021-03-29: more ...
2021-03-25: more ...
2021-03-24: more ...
2021-03-02: more ...
2020-12-07: more ...
The understanding of the impact of individual inherited and somatic genome variants on phenotypes and diseases requires a thorough understanding of the occurrence of such variants amongst populations in general and carriers of the phenotypes and diseases in particular. This information can only be provided through the inclusion of data from a multitude of genome resources in variant evaluation efforts, including such from outside (international) jurisdictions. However, opening such resources carries the inherent risk of breaching privacy, particularly through re-identification of individuals or their relatives and potentially through the exposure of individual genome-related personal information including phenotypic and “performance” prediction and relative disease risk.
2020-12-07: more ...
2020-11-04: more ...
2020-10-30: more ...
2020-09-30: more ...
2020-09-30: more ...
2020-09-02: more ...
2020-06-30: more ...
2020-06-10: more ...
2020-04-20: more ...
2020-03-19: more ...
2020-02-06: more ...
2020-01-28: more ...
2019-11-08: more ...
2019-10-08: more ...
2019-09-10: more ...
2019-09-10: more ...
2019-09-03: more ...
2019-06-14: more ...
2019-01-25: more ...
2018-09-17: more ...
2018-09-08: more ...
Qingyao 2018-06-29: more ...
2018-06-06: more ...
2018-06-04: more ...
2018-06-04: more ...
2018-06-04: more ...
2018-06-04: more ...
2018-06-04: more ...
2018-02-15: more ...
2017-12-07: more ...
2017-12-01: more ...
2017-10-15: more ...
2017-09-19: more ...
2017-09-13: more ...
2017-08-29: more ...
2017-02-21: more ...
2017-02-01: more ...
2017-01-26: more ...
2016-12-19: more ...
2016-12-02: more ...
2016-03-17: more ...