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Lavertu, A.

Publications and source records attributed to Lavertu, A..

3 recordsLinked to original sources

Genome-wide analysis of cell cycle-regulating genes in the symbiotic dinoflagellate Symbiodinium minutum.

A critical relationship exists between reef-building corals and their photosynthetic endosymbionts. As important as this relationship is for reef health, it is exquisitely delicate--exposure to temperatures only marginally above the average summer maximum can cause corals to bleach, expelling their resident algae. Interestingly, several studies indicate that failure of corals to properly regulate symbiont cell divisions at high temperatures may cause bleaching. This needs to be further investigated, but first, it is necessary to decipher the molecular mechanisms controlingl the cell division cycle in these organisms. As a first step toward this goal, we identified key cell cycle-regulating genes in the recently published genome of the symbiotic dinoflagellate Symbiodinium minutum. We then correlated expression of these genes with cell cycle phase in diurnally growing S. minutum in culture. Of particular interest, this approach allowed us to identify cyclins and cyclin-dependent kinases that are involved in the G1/S transition--a likely point for coral cells to exert control over algal cell divisions.

genomics

Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics

Large biobanks linking phenotype to genotype have led to an explosion of genetic association studies across a wide range of phenotypes. Sharing the knowledge generated by these resources with the scientific community remains a challenge due to patient privacy and the vast amount of data. Here we present Global Biobank Engine (GBE), a web-based tool that enables the exploration of the relationship between genotype and phenotype in large biobank cohorts, such as the UK Biobank. GBE supports browsing for results from genome-wide association studies, phenome-wide association studies, gene-based tests, and genetic correlation between phenotypes. We envision GBE as a platform that facilitates the dissemination of summary statistics from biobanks to the scientific and clinical communities. GBE currently hosts data from the UK Biobank and can be found freely available at biobankengine.stanford.edu.

bioinformatics

Medical relevance of protein-truncating variants across 337,208 individuals in the UK Biobank study

Protein-truncating variants can have profound effects on gene function and are critical for clinical genome interpretation and generating therapeutic hypotheses, but their relevance to medical phenotypes has not been systematically assessed. We characterized the effect of 18,228 protein-truncating variants across 135 phenotypes from the UK Biobank and found 27 associations between medical phenotypes and protein-truncating variants in genes outside the major histocompatibility complex. We performed phenome-wide analyses and directly measured the effect of homozygous carriers, commonly referred to as \"human knockouts,\" across medical phenotypes for genes implicated to be protective against disease or associated with at least one phenotype in our study and found several genes with strong pleiotropic or non-additive effects. Our results illustrate the importance of protein-truncating variants in a variety of diseases.

genetics