Biology subjects

Gaynor, B. J.

Publications and source records attributed to Gaynor, B. J..

3 recordsLinked to original sources

bioRxiv2021

An Omics Analysis Search and Information System (OASIS) for Enabling Biological Discovery in the Old Order Amish

The "Omics Analysis Search and Information System" (OASIS), developed at the University of Maryland School of Medicine, enables discovery by allowing researchers to mine results from genome wide association studies (GWAS). When interesting signals are found, the research can immediately ask follow-up questions and get answers in real-time. OASIS provides this unique capability with a web-based, scientist-friendly search system and a variety of real-time analysis tools (linkage disequilibrium calculations, conditional analysis, and direct variant comparison) plus on-demand visualizations (boxplots, histograms, LocusZoom & Haploview plots, and pedigree charts). Because OASIS uses a web-based user interface, an understanding of programming or the UNIX operating system is not required. The OASIS application has been used to enable discovery from whole-exome, whole-genome, metabolome, transcriptome and methylome association results for Old Order Amish studies at the University of Maryland School of Medicine.

bioinformatics↗

bioRxiv2020

Conditional Analysis Cakewalk

SummarySequential conditional analysis is an important tool for identifying the unique signals in single-variant association analysis between genomic variants and various phenotypic outcomes. With large datasets, it is tedious and time-consuming to manually run the sequential steps which require the association analysis, computation of linkage disequilibrium (LD) between the variants, generation of a visualization graphic, and identification of the "top hit" to be inserted as an additional covariate for the next iteration. The Conditional Analysis Cakewalk automates this process, making it easy and fast, while only requiring user input in the initial configuration steps. Availability and ImplementationThe Conditional Analysis Cakewalk is implemented as a Linux shell script utilizing MMAP or PLINK and LocusZoom. Source code and documentation are available at https://github.com/jennetics/Cakewalk.

bioinformatics↗

bioRxiv2019

Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

Exaggerated platelet aggregation at the site of vascular injury is the underlying pathophysiology of thrombotic diseases. Here, we conduct the largest whole genome sequencing (WGS) effort to uncover the genetic determinants of platelet aggregation. Leveraging 3,855 NHLBI Trans-Omics for Precision Medicine (TOPMed) individuals deeply phenotyped for platelet aggregation, we identify 18 loci using single-variant approaches. This includes the novel RGS18 locus encoding a myeloerythroid lineage-specific regulator of G-protein signaling that co-localizes with eQTL signatures for RGS18 expression in platelets. A gene-based approach focusing on deleterious coding variants identifies the SVEP1 gene, previously shown to be associated with coronary artery disease, as a novel determinant of platelet aggregation. Finally, in an integrative approach leveraging epigenetic data on megakaryocytes, we find strong association between rare variants mapping to a super enhancer region for PEAR1. This is a novel finding implicating the importance of rare variants with regulatory potential in a previously documented GWAS-identified locus.

genomics↗