The Michigan Genomics Initiative links genotypes with electronic clinical records in Michigan Medicine patients, showing higher disease prevalence and validating GWAS findings.

Cell Genomics · Jan 31, 2023Peer-reviewedGenetic & Genomic Medicine

LabWAS: novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks

Jeffery A. Goldstein, Joshua S. Weinstock, Lisa A. Bastarache, Daniel B. Larach, Lars G. Fritsche, Ellen M. Schmidt, Chad M. Brummett, Sachin Kheterpal, Gonçalo R. Abecasis, Joshua C. Denny, Matthew Zawistowski

This study conducts a meta-analysis of EHR-based lab measurements across two biobanks, identifying novel genetic associations and validating EHR data as a source for GWAS.

PLoS Genetics · Nov 11, 2020Peer-reviewedGenetic & Genomic Medicine

Exploring Various Polygenic Risk Scores for Skin Cancer in the Phenomes of the Michigan Genomics Initiative and the UK Biobank with a Visual Catalog: PRSWeb

Lars G. Fritsche, Lauren J. Beesley, Peter VandeHaar, Robert B. Peng, Maxwell Salvatore, Matthew Zawistowski, Sarah A. Gagliano Taliun, Sayantan Das, Jonathon LeFaive, Erin O’Brien Kaleba, Thomas T. Klumpner, Stephanie E. Moser, Victoria M. Blanc, Chad M. Brummett, Sachin Kheterpal, , Bhramar Mukherjee

This study constructs and evaluates polygenic risk scores for skin cancer subtypes using the Michigan Genomics Initiative and UK Biobank data, and develops a visual catalog to compare PRS methods.

PLoS Genetics · Jun 13, 2019Peer-reviewedGenetics

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

Sarah E. Graham, Jonas Bille Nielsen, Matthew Zawistowski, Wei Zhou, Lars G. Fritsche, Maiken Elvestad Gabrielsen, Anne Heidi Skogholt, Ida L. Surakka, Whitney Hornsby, Damian Fermin, Daniel B. Larach, Sachin Kheterpal, Chad M. Brummett, Seunggeun Lee, Hyun Min Kang, , Cristen J. Willer

This study identifies 147 genetic loci associated with eGFR, including 53 novel ones, and finds sex-specific effects on kidney function.

Nature Communications · Apr 23, 2019Peer-reviewedGenomics

Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

Jonas Bille Nielsen, Oren Rom, Ida L. Surakka, Sarah E. Graham, Wei Zhou, Lars G. Fritsche, Sarah A. Gagliano Taliun, Carlo Sidore, Yuhao Liu, Maiken Elvestad Gabrielsen, Anne Heidi Skogholt, Brooke N. Wolford, William Overton, Whitney Hornsby, Akua Acheampong, , Y. Eugene Chen

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

bioRxiv · Apr 2, 2019 · PreprintGenomics

Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation

Jonas Bille Nielsen, Rósa B. Þórólfsdóttir, Lars G. Fritsche, Wei Zhou, Morten Wagner Skov, Sarah E. Graham, Todd J. Herron, Shane McCarthy, Ellen M. Schmidt, Garðar Sveinbjörnsson, Ida L. Surakka, Michael R. Mathis, Masatoshi Yamazaki, Ryan Crawford, Maiken Elvestad Gabrielsen, , Cristen J. Willer

This study identifies 111 genetic loci and 163 risk variants associated with atrial fibrillation using a GWAS of over 1 million individuals.

Nature Genetics · Jul 26, 2018Peer-reviewedGenetics

Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative

Lars G. Fritsche, Stephen B. Gruber, Zhenke Wu, Ellen M. Schmidt, Matthew Zawistowski, Stephanie E. Moser, Victoria M. Blanc, Chad M. Brummett, Sachin Kheterpal, Gonçalo R. Abecasis, Bhramar Mukherjee

This study uses polygenic risk scores (PRS) for cancers in a phenome-wide association study (PheWAS) to identify associations with multiple phenotypes, finding significant links to both cancer and non-cancer diagnoses.

The American Journal of Human Genetics · May 17, 2018Peer-reviewedGenetics