Human Genome Organization


CONFIRMED members:

Co-Chair: Steven Brenner (University of California Berkeley, US)

Co-Chair: Melissa Cline (University of California Santa Cruz, US)

Co-Chair: Rosemary Ekong (University College London)

Co-Chair: Marc Greenblatt (University of Vermont, US)


Zilfalil bin Alwi (Universiti Sains Malaysia)

Tony Brookes (University of Leicester, UK)

Raymond Dalgleish (University of Leicester, UK)

Nilah Ioannidis (University of California Berkeley, US)

Jordan Lerner Ellis (University of Toronto, Canada)

Rachel Karchin (Johns Hopkins University)

Andreas Hadjisavvas (The Cyprus Institute of Neurology and Genetics)

Sean D. Mooney (University of Washington, US)


Mission statement:

To engage with researchers and patients, communicating knowledge on variant pathogenicity for the purpose of translating variant classification data into clinical benefit; to interface with international partners to enhance the FAIRness (Findability, Accessibility, Interoperability, and Reusability) of global pathogenicity data.


​​The HUGO Pathogenicity committee shall accomplish its mission by:

  1. Connecting researchers through a Pathogenicity forum at the HGM meeting, and other meetings.
  2. Connecting international groups that aggregate and curate global variation data.
  3. Engage with patient communities and connecting them with researchers.