Genotyping informatics and quality control for 100,000 subjects in the genetic epidemiology research on adult health and aging (GERA) cohort

Mark N. Kvale, Stephanie Hesselson, Thomas J. Hoffmann, Yang Cao, David Chan, Sheryl Connell, Lisa A. Croen, Brad P. Dispensa, Jasmin Eshragh, Andrea Finn, Jeremy Gollub, Carlos Iribarren, Eric Jorgenson, Lawrence H. Kush, Richard Lao, Yontao Lu, Dana Ludwig, Gurpreet K. Mathaud, William B. McGuire, Gangwu MeiSunita Miles, Michael Mittman, Mohini Patil, Charles P. Quesenberry, Dilrini Ranatunga, Sarah Rowell, Marianne Sadler, Lori C. Sakoda, Michael Shapero, Ling Shen, Tanu Shenoy, David Smethurst, Carol P. Somkin, Stephen K. Van Den Eeden, Lawrence Walter, Eunice Wan, Teresa Webster, Rachel Whitmer, Simon Wong, Chia Zau, Yiping Zhan, Catherine Schaefer, Pui Yan Kwok, Neil Risch

Research output: Contribution to journalArticlepeer-review

105 Scopus citations


The Kaiser Permanente (KP) Research Program on Genes, Environment and Health (RPGEH), in collaboration with the University of California—San Francisco, undertook genome-wide genotyping of >100,000 subjects that constitute the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. The project, which generated >70 billion genotypes, represents the first large-scale use of the Affymetrix Axiom Genotyping Solution. Because genotyping took place over a short 14-month period, creating a near-real-time analysis pipeline for experimental assay quality control and final optimized analyses was critical. Because of the multi-ethnic nature of the cohort, four different ethnic-specific arrays were employed to enhance genome-wide coverage. All assays were performed on DNA extracted from saliva samples. To improve sample call rates and significantly increase genotype concordance, we partitioned the cohort into disjoint packages of plates with similar assay contexts. Using strict QC criteria, the overall genotyping success rate was 103,067 of 109,837 samples assayed (93.8%), with a range of 92.1-95.4% for the four different arrays. Similarly, the SNP genotyping success rate ranged from 98.1 to 99.4% across the four arrays, the variation depending mostly on how many SNPs were included as single copy vs. double copy on a particular array. The high quality and large scale of genotype data created on this cohort, in conjunction with comprehensive longitudinal data from the KP electronic health records of participants, will enable a broad range of highly powered genome-wide association studies on a diversity of traits and conditions.

Original languageEnglish (US)
Pages (from-to)1051-1060
Number of pages10
Issue number4
StatePublished - Aug 1 2015
Externally publishedYes


  • Affymetrix axiom
  • Genome-wide genotyping
  • GERA cohort
  • Quality control
  • Saliva DNA

ASJC Scopus subject areas

  • Genetics


Dive into the research topics of 'Genotyping informatics and quality control for 100,000 subjects in the genetic epidemiology research on adult health and aging (GERA) cohort'. Together they form a unique fingerprint.

Cite this