Informatics & Analysis
  1. Finalize system map for ClinGen informatics activities
  2. Design and develop user-facing tools for accessing ClinGenDB and related data sources. Select and implement existing curation tools as recommended by expert curators.
  3. Establish process/tools for extracting data from ClinVar and other sources for use in ClinGenDB
  4. Implement agreed-upon data access levels and requirements within ClinGenDB
  5. Develop novel methods for data analysis
  6. Develop a database to house case-level and individual level data

Name Role
Carlos Bustamante, PhD Executive Leadership
Andrew Jackson Coordinator
Sameer Paithankar Coordinator
Cody Montana Sam Coordinator
Sandy Aronson, ALM, MA Member
Larry Babb Member
Jonathan Berg, MD, PhD Member
Chris Bizon, PhD Member
Lisa D. Brooks, PhD Member
Meredith L. Carpenter, PhD Member
J. Michael Cherry, PhD Member
Karen Dalton Member
Selina Dwight, PhD Member
Karen Eilbeck, MSc, PhD Member
Michael Feolo, PhD Member
Rajarshi Ghosh, PhD Member
Marc Greenblatt, MD Member
Nathan Hammond, PhD Member
Steven Harrison, PhD Member
Bret Heale, PhD Member
Nilah Ioannidis, PhD Member
Katie M. Kanagawa, PhD Member
Teri E. Klein, PhD, FACMI, FACMG Member
Melissa Landrum, PhD Member
Jennifer Lee, PhD Member
Kang Liu, PhD Member
Subha Madhavan, PhD Member
Donna Maglott, PhD Member
Christa Lese Martin, PhD, FACMG Member
Peter McGarvey, PhD Member
Kimberly McManus Member
Aleksandar Milosavljevic, PhD Member
Jill Mitkowski Member
Stephen B. Montgomery, PhD Member
Rakesh Nagarajan, MD, PhD Member
Elke Norwig-Eastaugh Member
Casey L. Overby, PhD Member
Ronak Patel Member
Sharon E. Plon, MD, PhD Member
Snehit Prabhu Member
Erin M. Ramos, MPH, PhD Member
Heidi Rehm, PhD Member
Wendy Rubinstein, MD, PhD Member
Anna Rychkova PhD Member
Shawn Rynearson Member
Indra Neil Sarkar, PhD, MLIS Member
Charles Schmitt, PhD Member
Stephen Sherry, PhD Member
Weronika Sikora-Wohlfield, PhD Member
Marina Sirota, PhD Member
Ken Wiley, PhD Member
Kirk Wilhelmsen, PhD Member
Marc S Williams, MD Member
Matt Wright, PhD Member


Carlos Bustamante, PhD


Please contact a coordinator if you have questions.

Andrew Jackson

Sameer Paithankar

Cody Montana Sam


54 members contribute to the Informatics & Analysis Working Grouping. All Members