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Medical and Clinical Genomics

Bustamante Lab members are thought leaders in the fields of medical and clinical genomics. As key members of the PAGE Consortium and the recently announced $25M ClinGen project to build the country's National Database of Clinically Relevant Genomic Variants, we are dedicated to furthering the aims of sharing data, building knowledge, developing global technology, improving care, and engaging the genomics community in new and groundbreaking ways. 

Accomplishments include, but are limited to: 

  • PAGE - We are key members of the PAGE consortium, whose goal is to enable genetic association studies across all of the world’s populations. We are currently leading the development of the multi-ethnic genome-wide association (MEGA) array, a new technique that offers balanced trans-ethnic genomic coverage with carefully curated content for screening for regions of interest and known medical and clinical variants. 
  • Preeclampsia - In collaboration with the Hospital Regional "Manuel Núñez Butrón" in Puno, Peru, located high in the Andes mountains, we are studying the basis of the high incidence of this reproductive disease in a population adapted to high altitude. 
  • ClinGen - The Bustamante Lab leads several large-scale computational aspects of ClinGen, including leveraging machine learning to predict pathogenic coding and non-coding variants, and methods of sharing data across clinics to empower the entire clinical genetics community. 
  • Cystic fibrosis - As part of the ClinGen project, we are developing a computational predictor for the pathogenicity of mutations in the CFTR gene and performing functional analysis of a panel of mutations to assess their effects in a cell model of the disease.