From genes to cells to diseases
Our lab focuses on understanding the mechanisms by which genetic variation influences gene regulation and gene expression to define human traits. We utilize high throughput next generation sequencing to interrogate genomes and genome function in combination with the novel bioinformatics and statistical genetics tools.
March 31, 2013: Marianne DeGorter named a Banting Fellow
March 14, 2013: Marianne DeGorter, Ph.D. joins the lab
August 31st, 2012: Tracy Nance, Ph.D. joins the lab
April 18th, 2012: Kim Kukurba awarded a Dept of Defense Graduate Research Fellowship
April 16th, 2012: Mauro Pala joins the lab
April 2th, 2012: Mark Piercy joins the lab
Mar 30th, 2012: Kim Kukurba awarded an NSF Graduate Research Fellowship
Feb 8th, 2012: Our work gets featured in Nature.
Jan 3rd, 2012: Dr Xin Li joins the lab
Dec 1, 2011: Profiled by Genome Technology magazine.
Sept 23rd, 2011: Dr Kevin Smith joins the lab
July 1, 2011: The lab opens its doors in the Department of Pathology. Actively seeking postdoctoral researchers and graduate students.
May 22-24th, 2013: Stanford, USA Big Data in Biomedicine
August 11-16th, 2013: Banff, Canada Statistical Data Integration Challenges in Computational Biology
September 9-13th, 2013: Sardinia, Italy Sardinian Summer School in Complex Trait Genetics
September 15-17th, 2013: Chicago, USA IGES 2013
October 22-26th, 2013: Boston, USA ASHG 2013
Karczewski, K.J., et al. Systematic functional regulatory assessment of disease-associated variants PNAS, 2013
Sweeney, R.T., et al. Desktop transcriptome sequencing from archival tissue to identify clinically relevant translocations. American Journal of Surgical Pathology, 2013
Li, X, et al. Detection and impact of rare regulatory variants in human disease Frontiers in Statistical Genetics and Methodology, 2013
Montgomery, S.B, et al. The origin, evolution and functional impact of short insertion-deletion variants identified in 179 human genomes Genome Research, 2013
Granel, R., et al. Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes J Allergy Clin Immunology, 2012
Dimas, A.S., et al. Sex-biased genetic effects on gene regulation in humans Genome Research, Sept 2012
Grundberg, E. et al. Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nature Genetics, Sept 2012
Lefebvre, J.F. et al. Genotype-Based Test in Mapping Cis-Regulatory Variants from Allele-Specific Expression Data PLoS One, June 2012
Stranger, B.E., Montgomery, S.B., Dimas, A.S., et al. Patterns of Cis Regulatory Variation in Diverse Human Populations PLoS Genetics, Apr 2012
Macarthur et al. A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes Science, Feb 2012
Paternoster et al.Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Nature Genetics, Dec 2011
Lappalainen et al. Epistatic Selection between Coding and Regulatory Variation in Human Evolution and Disease American Journal of Human Genetics, Sept 2011
Sharp et al. DNA methylation profiles of human active and inactive X chromosomes Genome Research, Aug 2011