User:AaronRQuinlan/Sample page

Aaron R. Quinlan, PhD
Aaron Quinlan is a computational genomics and the Associate Director of the Utah Center for Genetic Discovery. He is an expert in computational genomics and the development of data integration tools. Dr. Quinlan has developed several popular software packages for large-scale genome analyses and human disease studies. Dr. Quinlan’s research group applies its methods to several human disease contexts and is currently focused on developing new strategies for extracting insight into disease from genetic variation observed among millions of human genomes.

Quinlan Lab
The research in Quinlan Lab is focused on the application of computational methods to develop a deeper understanding of genetic variation in diverse contexts. Modern experimental methods allow us to examine entire genomes with exquisite detail. Perhaps not surprisingly, staggering complexity is revealed as we look more closely at how genetic variation (both inherited and somatic) contributes to phenotypes. Modern genomic technologies necessitate efficient approaches for exploring, manipulating and comparing large genomic datasets. His lab develops such methods so that we and others may apply them to experiments investigating the impact of genetic variation on human disease, evolution, and somatic differentiation. Genome research is difficult – they strive to develop computational means that make it easier.

Education
Quinlan gained his Bachelor of Science degree in computer science from College of William and Mary, Williamsburg, VA in 1997. He gained his PhD degrees in Computational Genomics from Boston College, Chestnut Hill, MA in 2008 and he obtain his Postdoctoral in Mammalian genomics from University of Virginia, Charlottesville, VA in 2010, respectively.

Career
In 2012 Quinlan developed GEMINI, a new software framework for exploring and prioritizing genetic variation in rare human disease studies. Unlike existing tools, GEMINI directly integrates genetic variation with a diverse and adaptable set of genome annotations (e.g., dbSNP, ENCODE, UCSC, ClinVar, OMIM, KEGG) into a unified database to facilitate interpretation and data exploration. GEMINI allows one to compose simple queries based on individual (and family) genotypes, inheritance patterns, and genome annotations. GEMINI is widely used in the rare human disease community and at several leading genetics institutes, including the NIH Centers for Mendelian Genomics. His laboratory has continued to develop numerous, widely used software tools for rare disease research including SLIVAR (the successor to GEMINI), INDEXCOV, PEDDY, MOSDEPTH, and STRLING.

Dr. Quinlan became an Assistant Professor at the University of Utah in February 2015.

Honors
2016, 2018     Organizer for Genome Informatics 2016 at Welcome Trust

2015                Session Chair for Genome Informatics 2015 at Cold Spring Harbor Laboratories

2014, 2015     Abstract Reviewer for American Society of Human Genetics Meeting

2014                Moderator for Genome Reference Consortium Meeting

2014                Abstract Reviewer for American Society of Human Genetics Meeting

2014                Session Chair for American Society of Human Genetics Meeting

2013                Secondary appoint in the Department of Computer Science

2013                Session Chair for Genome Informatics 2013 at Cold Spring Harbor Laboratories

2013                Finalist for the Benjamin Franklin for Open Access in the Life Sciences

2012                Secondary appoint in the Department of Biochemistry and Molecular Genetics

2011, 2012     Co-chair of Structural Variation Working Group for the NHLBI Exome Sequencing Project

2011                Fund for Excellence in Science and Technology Awardee, University of Virginia

2008                Ruth L. Kirschstein (NRSA) Postdoctoral Fellowship, NIH (NHGRI)

2004-07          Presidential Fellowship, Boston College

External links section
Aaron Quinlan on Twitter