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Santica M. Marcovina

dblp:370/5013 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2023
—ORCID · unresolved

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1 · 1 since 2021

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 100%

Topics — the 2 heaviest of 2, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › statistical genetics
gene-environment interaction
0.712023
Re-analysis and meta-analysis of summary statistics from gene-environment interaction studies · Bioinform. 2023
Bioinformatics and computational biology › genomics
genome-wide association study
0.712023
Re-analysis and meta-analysis of summary statistics from gene-environment interaction studies · Bioinform. 2023

Methods — techniques the papers use, named apart from their topics

fixed-effects meta-analysis · 0.7
YearPublicationVenuePosition
2023 Re-analysis and meta-analysis of summary statistics from gene-environment interaction studies
abstract
MOTIVATION: statistics from genome-wide association studies enable many valuable downstream analyses that are more efficient than individual-level data analysis while also reducing privacy concerns. As growing sample sizes enable better-powered analysis of gene-environment interactions, there is a need for gene-environment interaction-specific methods that manipulate and use summary statistics. RESULTS: We introduce two tools to facilitate such analysis, with a focus on statistical models containing multiple gene-exposure and/or gene-covariate interaction terms. REGEM (RE-analysis of GEM summary statistics) uses summary statistics from a single, multi-exposure genome-wide interaction study to derive analogous sets of summary statistics with arbitrary sets of exposures and interaction covariate adjustments. METAGEM (META-analysis of GEM summary statistics) extends current fixed-effects meta-analysis models to incorporate multiple exposures from multiple studies. We demonstrate the value and efficiency of these tools by exploring alternative methods of accounting for ancestry-related population stratification in genome-wide interaction study in the UK Biobank as well as by conducting a multi-exposure genome-wide interaction study meta-analysis in cohorts from the diabetes-focused ProDiGY consortium. These programs help to maximize the value of summary statistics from diverse and complex gene-environment interaction studies. AVAILABILITY AND IMPLEMENTATION: REGEM and METAGEM are open-source projects freely available at https://github.com/large-scale-gxe-methods/REGEM and https://github.com/large-scale-gxe-methods/METAGEM.
Duy T. Pham, Kenneth E. Westerman, Shylaja Srinivasan, Elvira Isganaitis, Mary Ellen Vajravelu, Fida Bacha, Steve Chernausek, Rose Gubitosi-Klug, Jasmin Divers, Catherine Pihoker, Santica M. Marcovina, Alisa Manning
Bioinform.13