Aakrosh Ratan joins CPHG faculty

This summer the Center welcomes Aakrosh Ratan, PhD, a new resident faculty member, and Assistant Professor of Public Health Sciences. Dr. Ratan joins the Center from Pennsylvania State University where he worked as a Research Associate with Professor Webb Miller. His primary research interests are comparative genomics, molecular evolution and algorithm design & analysis. Dr. Ratan will be collaborating on projects with CPHG resident and affiliate faculty, including Dr. Tom Loughran and other members of the Cancer Center.

Posted in Homepage Feed, Uncategorized | Comments Off

Quinlan gives plenary session talk at Biology of Genomes meeting

CPHG faculty member, Dr. Aaron Quinlan, gave the plenary session talk at The Biology of Genomes meeting on May 9th. Held annually at Cold Springs Harbor Laboratory in New York, it is considered to be the premier genomics meeting in the world with presentations by many of the top genomic scientists. Dr. Quinlan’s talk described his research which seeks to understand how ovarian cancer genomes evolve subsequent to chemotherapy. He emphasized the importance of this research noting that ovarian cancer has the highest mortality rate among gynecological malignancies, due to the fact that most patients are diagnosed with advanced stage disease, and that the majority develop chemoresistant disease. In order to identify genetic mutations that might give insight into what is driving the acquisition of resistance, the Quinlan Lab sequenced the DNA of patient tumors both before and after chemotherapy. The resulting data yields insight into the common genes and pathways that drive resistance and hint at future personalized therapies.

Posted in Homepage Feed, Uncategorized | Comments Off

BAYSIC offers improved variant-calling accuracy for genomic variant detection

A study by researchers, including Dr. Aaron Mackey of the Center for Public Health Genomics, was published in a recent edition of BMC Bioinformatics. The study seeks to improve the methods for accurately identifying SNPs and other genomic variants, thus increasing the reliability and usefulness of genomics data in clinical settings. The paper describes BAYSIC (BAYeSian Integrated Caller), a novel algorithm that uses a Bayesian statistical method to combine variant sets produced by different bioinformatic packages into a reliable set of genome variants. Some strengths of BAYSIC highlighted by the authors are that the algorithm integrates data produced from multiple SNP callers, and produces a call set with a posterior probability that is intuitive and can be used for quantitative filtering; BAYSIC is a completely unsupervised method of classification and requires no training on validated data sets; and BAYSIC performance improves along with the sensitivity or specificity gains of the input call sets. BAYSIC: a Bayesian method for combining sets of genome variants with improved specificity and sensitivity can be read in full in the April 12, 2014 issue of BMC Bioinformatics.

Posted in Homepage Feed, Uncategorized | Comments Off

CPHG Researchers Identify Genes Influencing Bone Density

A research team, including CPHG members Drs. Larry Mesner, Ani Manichaikul, Stephen Rich and Charles Farber, has used a systems genetics approach in the mouse to identify Bicc1 as a novel regulator of bone mineral density (BMD).  BMD is the single strongest predictor of bone fractures, which are experienced by millions of Americans each year.  In addition to identifying Bicc1, the team demonstrated that Bicc1 affected BMD by altering the activity of bone-forming osteoblasts.  The group also showed, using a novel network-based approach, that Bicc1 influenced osteoblast activity through an interaction with a second gene, Pkd2. Data from two human genome-wide association meta-analyses were used to demonstrate that genetic variation in BICC1 and PKD2 were also associated with BMD in humans.

News of the researchers’ findings was reported in the May 5th issue of UVa Today.  The story was also covered by local TV and radio outlets and as a “Research Highlight” in a forthcoming issue of Nature Reviews Endocrinology. The full text of the paper, Bicc1 is a genetic determinant of osteoblastogenesis and bone mineral density, can be found in the online edition of The Journal of Clinical Investigation.

Posted in Homepage Feed, Uncategorized | Comments Off

News from the Quinlan Lab

Here are a few highlights from happenings in the Quinlan Lab . . . Ryan Layer started as a postdoc in both the Quinlan and Hall Labs with funding by the Cancer Training Grant. Jim Havrilla began working in the lab as a Biomedical Sciences (BIMS) graduate student. Aaron Quinlan made it to the final 100 competitors for the Moore Foundation’s Data Driven Discovery Award. Ryan Layer presented at the Advances in Genome Biology & Technology (AGBT) Meeting in February after outrunning a snowstorm and driving all night to get there. A new paper has been published in Cell Death and Disease from collaborations with the Concannon Lab (University of Florida): Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double strand breaks.

Posted in Homepage Feed, Uncategorized | Comments Off

Allen earns doctoral degree through her research on chronic otitis media

Congratulations go out to Dr. E. Kaity Allen on the successful defense of her PhD dissertation! Dr. Allen’s dissertation presentation held April 7th, was entitled “Honing in on genetic risk of chronic otitis media with effusion and/or recurrent otitis media.” The aim of her research was to find novel risk factors that increase OM susceptibility by looking at both host genetics and bacterial communities during upper respiratory tract infection (URTI).  This research showed the complex nature of the microbiome of the nasopharynx during URTI and identified novel regions and genes involved in susceptibility to OM.  Moreover, functional assays support the participation of previously unsuspected mechanisms in OM pathogenesis.  In summary, this research has provided insights into OM susceptibility from both host and bacterial perspectives.  Committee members for Allen’s dissertation defense were David Wotton (Chair), Michele Sale (Advisor), Jason Papin (Dean’s Representative), Stefan Bekiranov, Keith Keene, and Ani Manichaikul.

Posted in Homepage Feed, Uncategorized | Comments Off

Quinlan receives early access to portable DNA sequencing device

CPHG faculty member, Dr. Aaron Quinlan, is among a select few who have been given early access to the MinION, a portable DNA sequencing device being developed by the U.K. based company Oxford Nanopore Technologies. The device, which is the size of a flash drive and plugs directly into a USB port on a computer, delivers sequence data using nanopore technology. The scientists invited to take part in this program to use the MinION before it is commercially available will haMinIONve the opportunity to test the device and develop applications in their particular research area. Through this open development process, Oxford Nanopore expects there will be rapid improvement in the performance of the MinION, as well as in the applications for using it.

Posted in Homepage Feed, Uncategorized | Comments Off

Researchers identify key gene variation linked to increased stroke risk

Dr. Stephen Williams, a postdoctoral fellow in CPHG and CVRC, and CPHG faculty Dr. Michèle Sale, Associate Professor, Dr. Brad Worrall, Professor of Neurology, and Dr. Wei-Min Chen, Associate Professor, are part of the research team that has made a breakthrough discovery that could have important implications for understanding stroke, as well as other diseases. In this study, which focused on the conversion of the enzyme methionine into homocysteine, the scientists conducted independent genome-wide association studies and a meta-analysis of methionine metabolism, in 2,710 participants from the Framingham Heart Study (FHS) and 2,100 participants from the Vitamin Intervention for Stroke Prevention (VISP) clinical trial, and then examined the association of the identified loci with incident stroke in FHS. Based on their findings, the team subsequently developed a genetic risk score that predicts post-methionine load homocysteine levels, and also identified a novel association between ischemic stroke and ALDH1L1, both of which highlight the potential impact this discovery may have in clinical settings.

News of the researchers’ findings was reported in the March 27th issue of UVa Today. The full text of the paper, Genome-Wide Meta-Analysis of Homocysteine and Methionine Metabolism Identifies Five One Carbon Metabolism Loci and a Novel Association of ALDH1L1 with Ischemic Stroke, can be found in the March 20, 2014 issue of PLoS Genetics.

Posted in Homepage Feed, Uncategorized | Comments Off

Important implications found for design and analysis of rare variant GWAS studies

A study by researchers, including Dr. Stephen Rich, Director of the Center for Public Health Genomics, was published recently in PLoS One. The focus of the study was to advance understanding of the impact that population stratification has on rare variant association methods. The researchers performed exhaustive coalescent simulations with demographic parameters calibrated from exome sequence data to evaluate the performance of nine rare variant association methods in the presence of fine-scale population structure. They found that all methods have an inflated spurious association rate for parameter values that are consistent with levels of differentiation typical of European populations. The results have important implications for the design, analysis, and interpretation of rare variant genome-wide association studies. Fine-scale patterns of population stratification confound rare variant association tests can be read in full in the July 4, 2013 issue of PLoS One

Posted in Homepage Feed, Uncategorized | Comments Off

Quinlan and Hall inducted into Millipub Club

Dr. Aaron Quinlan, Assistant Professor, CPHG, and Dr. Ira Hall, Assistant Professor, Biochemistry and Molecular Genetics, and affiliate faculty member of CPHG, were among a group of ten researchers who were inducted into the UVa SOM Millipub Club for 2013. This club which was created in 2012 with an initial group of 33 members, was formed to specifically recognize researchers who reach the milestone of having a single paper cited over 1000 times. Dr. Quinlan was recognized for his work on A map of human genome variation from population-scale sequencing, the first publication from The 1000 Genomes Project, and Dr. Hall was recognized for Regulation of Heterochromatic Silencing and Histone H3 Lysine-9 Methylation by RNAi published in Science in 2002. The complete list of Millipub members can be seen on a plaque in the lobby of the Claude Moore Health Sciences Library.

Posted in Homepage Feed, Uncategorized | Comments Off