Past Event

Emma Kowal - Race in a Genome: Long Read Sequencing, Ethnicity-Specific Reference Genomes and the Shifting Horizon of Race

April 10, 2019
1:00 PM - 2:00 PM
Event time is displayed in your time zone.
Irving Institute for Clinical and Translational Research (Rm. 10-405B), Presbyterian Hospital Building, 622 West 168th Street, New York

Event Description:

Sequencing of the human genome at the turn of the 21st century was hailed as revealing the overwhelming genetic similarity of human groups. Scholars of genomics critiqued the subsequent persistence of race-based genetic science but were reassured that the wide availability of gene sequencing would end the use of race as a proxy for genetic difference. At the same time, genome science was recognising that the differences among genomes went beyond sequence to the structure of the genome itself, including insertions, deletions, translocations, inversions, and copy number variations. This means that the ‘universal’ reference genome used for genome sequencing is not so universal. As conventional, ‘short-read’ sequencing wrongly assumes that all genomes have the same structure, significant genetic variation can be missed.

This presentation examines two proposed solutions to the biases of short-read sequencing: ‘long-read’ sequencing and ‘ethnicity-specific reference genomes.’ Our analysis of one ethnicity-specific reference genome project, the Korean Reference Genome (KOREF), finds that it unduly emphasizes the importance of population structural variation, framed in nationalist terms, and discounts the importance of individual structural variation. The presentation argues that the intellectual labour required to make a Korean reference genome a coherent concept extends the horizon of race, prolonging the time that race remains a seemingly valid concept in genomic science. 

Event Speaker:

Emma Kowal is a Professor of Anthropology at the School of Humanities and Social Science at Deakin University. 

Event Information:

This event is hosted by the Center for Research on Ethical/Legal/Social Implications of Psychiatric, Neurologic & Behavioral Genetics and Department of Psychiatry at the Columbia University Medical Center. The event is free and open to the public. For further information or to convey suggestions about future speakers, contact Paul S. Appelbaum, MD, Department of Psychiatry, at 646-774-8630 or [email protected].