News
Researchers identified two novel genes that affect bone-formation cells relevant to fractures and osteoporosis; understanding these genes could lead to more effective treatments.
CHOP researchers: Innovative functional genomics tools likely to aid discovery in other genetic diseases
CHOP researchers: Innovative functional genomics tools likely to aid discovery in other genetic diseases
Genomic Basis to Shared Influences on Pubertal Timing and Type 2 Diabetes. Diana L. Cousminer*, Rajashree Mishra*, Mariana Argenziano*, Elisabetta Manduchi*, Kenyaita M. Hodge, Chun Su, Michelle E. Leonard, Sumei Lu, James A. Pippin, Matthew E. Johnson, Andrew D. Wells, Alessandra Chesi, Benjamin F. Voight, Struan F.A. Grant. Oral Abstract Presentation. June 7 - 11, 2019, San Francisco, California, USA.
*equal contribution
Genome-scale Capture C promoter interaction analysis implicates novel effector genes at lipid GWAS loci. Elisabetta Manduchi, Alessandra Chesi, Chun Su, Michelle E. Leonard, Sumei Lu, Kenyaita M. Hodge, James A. Pippin, Robert C. Bauer, Matthew E. Johnson, Andrew D. Wells, and Struan F. A. Grant. Moderated Poster. November 10th-12th, 2018. Chicago, IL., USA
Genome-scale capture C promoter interaction analysis implicates novel effector genes at GWAS loci for bone mineral density. A. Chesi, Y. Wagley, M.E. Johnson, M. Manduchi, C. Su, S. Lu, M.E. Leonard, K.M. Hodge, J.A. Pippin, K.D. Hankenson, A.D. Wells, S.F.A. Grant. Plenary talk. October 16th-20th, 2018. San Diego, CA., USA
Genetic study of longitudinal pubertal height growth describes links with adult health. D. Cousminer, Early Growth Genetics (EGG) Consortium. Platform Presentation. October 16th-20th, 2018. San Diego, CA., USA
Diana Cousminer, PhD, Division of Human Genetics (CHOP); Title: Identifying biomarkers of adverse health in early and late puberty using a computational ‘multiomics’ approach.
Complex diseases are associated with genetic, environmental, and lifestyle factors. Genome-wide association studies, or GWAS, use arrays to identify DNA variants associated with traits or diseases. Professors Struan Grant and Andrew Wells of the Children's Hospital of Philadelphia discuss how they use NGS to map variants to causal genes.