Ancestry Matters: Lack of Representation of Human Genetic Diversity in Genomic Databases

I was delighted to have been invited as one of the guest speakers for this series of talks, followed by an in-person discussion in Boston.

Interview: American Society of Human Genetics (ASHG) Trainee Paper Spotlight

Listen here EPISODE DETAILS Hosts, Andrew Marderstein and Lucia Hindorff, chat with Barbara Bitarello on her work, " Polygenic Scores for Height in Admixed Populations" and what led to her career path. Check out the written interview by visiting the ASHG website. Link to the publication which the podcast is focusing on: “Polygenic Scores for Height in Admixed Populations”

American Society of Human Genetics (ASHG) Trainee Paper Spotlight

Hosts, Andrew Marderstein and Lucia Hindorff, chat with Bárbara Bitarello on her work, " Polygenic Scores for Height in Admixed Populations" and what led to her career path. Check out the written interview by visiting the ASHG website. Read the paper here: “Polygenic Scores for Height in Admixed Populations” Listen here

Boinformatics: Chatting about polygenic risk scores

Listen here. Polygenic risk scores (PRS) rely on the genome-wide association studies (GWAS) to predict the phenotype based on the genotype. However, the prediction accuracy suffers when GWAS from one population are used to calculate PRS within a different population, which is a problem because the majority of the GWAS are done on cohorts of European ancestry. In this episode, Bárbara Bitarello helps us understand how PRS work and why they don’t transfer well across populations.

Low transferability of height polygenic risk scores in admixed ancestry populations

Abstract Polygenic risk scores (PRS) summarize the results of GWAS into a single number that can predict quantitative phenotype or disease risk. One barrier to the use of PRS in clinical practice is that the majority of GWAS come from cohorts of European ancestry, and predictive power is lower in non-European ancestry cohorts. There are many possible reasons for this decrease; here we show that differences in allele frequencies, LD patterns, and phenotypic variance across ancestries are unlikely to be driving this pattern.

Investigating the lack of transferability of polygenic risk scores in cohorts with admixed ancestry

Abstract | Polygenic risk scores (PRS) can be used to summarize the results of genome-wide association studies (GWAS) into a single number representing the risk of disease. For some traits (for example, cardiovascular disease, breast cancer) PRS allows us to identify individuals with clinically actionable levels of risk in the tails of the PRS distribution. One barrier to the use of PRS in clinical practice is that the majority of GWAS come from cohorts of European ancestry, and predictive power is lower in non-European ancestry cohorts.