Selected Publications

For a complete list of 18 coauthored publications, please visit my Google Scholar page.

*=These authors made equal contribution

**=Large consortium paper with many authors

Autoimmune Disease & HLA-related Genetic Epidemiology

These works are related to my studies of autoimmune disease, particularly vitiligo, an autoimmune disease that causes patchy de-pigmentation of skin and hair. It showcases my extensive background in statistical genetics analysis, including genome-wide association studies (GWAS), family-based genetic association studies, polygenic risk scores, and special handling of genetic association analysis in the HLA region.

  • G.H.L. Roberts, P.R. Fain, S.A. Santorico, & Richard A. Spritz (2024) Inverse relationship between polygenic risk burden and age-of-onset of autoimmune vitiligo. American Journal of Human Genetics [In Press]

  • G.H.L. Roberts, S.A. Santorico, & R.A. Spritz. (2020). Deep genotype imputation captures virtually all heritability of autoimmune vitiligo. Human Molecular Genetics. 29(5), 859-863. https://doi.org/10.1093/hmg/ddaa005

  • G.H.L. Roberts, S. Paul, D. Yorgov, S.A. Santorico, & R.A. Spritz. (2019) Family clustering of autoimmune vitiligo results principally from polygenic inheritance of common risk alleles. The American Journal of Human Genetics. 105(2), 364-372. https://doi.org/10.1016/j.ajhg.2019.06.013

  • Y. Jin*, G.H.L. Roberts*, S. Paul, D. Yorgov, S.A. Santorico, & R.A. Spritz. (2019) Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression. Nature Communications. 10(1), 391 391. https://doi.org/10.1038/s41467-019-08337-4

  • Y. Jin, G.H. Andersen, S.A. Santorico, & R.A. Spritz. (2017) Multiple functional variants of IFIH1, a gene involved in triggering innate immune responses, protect against vitiligo. Journal of Investigative Dermatology. Feb;137(2):522-524. https://doi.org/10.1016/j.jid.2016.09.021

  • Y. Jin, G. Andersen, D. Yorgov...S.A. Santorico, & R.A. Spritz. (2016) Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. Nature Genetics. Nov;48(11):1418 1424. https://doi.org/10.1038/ng.3680

COVID-19 Host Genetic Epidemiology

This work showcases my industry background in genetic epidemiology related to COVID-19. This was the result of a collaboration between Ancestry.com and Regeneron Pharmaceuticals, and notably led to the identification of ACE2 as a potential target for severe COVID-19. At Ancestry, I served as an analysis lead for Ancestry’s contributions to the COVID-19 Host Genetics Initiative.

  • J.A. Kosmicki…G.H.L. Roberts…G.R. Abecasis, M.A.R Ferreira. (2024) Genetic risk factors for COVID-19 and influenza are largely distinct. Nature Genetics. https://doi.org/10.1038/s41588-024-01844-1

  • G.H.L. Roberts*, R. Partha*, B. Rhead*...K.A. Rand. (2022) Expanded COVID-19 phenotype definitions reveal phenotypically distinct patterns of genetic association and protective effects. Nature Genetics. https://doi.org/10.1038/s41588-022-01042-x

  • J.E. Horowitz, J.A. Kosmicki, A. Damask, D. Sharma, G.H.L. Roberts...G.R. Abecasis & M.A. Ferreira. (2022) Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease. Nature Genetics. https://doi.org/10.1038/s41588-021-01006-7

  • COVID-19 Host Genetics Initiative [G.H.L. Roberts**, Analysis Lead]. (2021) Mapping the human genetic architecture of COVID-19. Nature. https://doi.org/10.1038/s41586-021-03767-x

CRISPR High-Throughput Screening & AI

This work showcases my industry background in AI-driven high-throughput platform drug discovery. My specific contributions to this work were: (1) Discovered a major source of confounding in Recursion’s high-throughput CRISPR knockout data, wherein the cell morphology of two separate CRISPR gene knockouts on the same chromosome arm often appeared erroneously similar, (2) Proposed a hypothesis that this bias was due to large deletions caused by cas9-induced double-stranded breaks, (3) Proposed a de-biasing correction for this bias in high-dimensional data that is now used by both Recursion and DepMap.

  • N.H. Lazar...G.H.L. Roberts, C.C. Gibson & I.S. Haque. (2023) High-resolution genome-wide mapping of chromosome arm-scale truncations induced by CRISPR-Cas9 editing. bioRxiv, 2023-04. https://doi.org/10.1101/2023.04.15.537038

Pathogen Genetics and Phylogeographic Analysis

This work shows some of my early scientific career, which focused on phylogenetic and phylogeographic analysis of globally diverse strains of the bacteria Y. pestis, the causative agent of plague.

  • A.J. Vogler, F. Chan, R. Nottingham, G. Andersen, K. Drees, S.M. Beckstrom-Sternberg, D.M. Wagner, S. Chanteau & P. Keim. (2013) A decade of plague in Mahajanga, Madagascar: insights into the global maritime spread of pandemic plague. MBio. Feb 12;4(1):e00623-12. https://doi.org/10.1128/mbio.00623-12