Elisabetta Manduchi

University of Pennsylvania
Department of Biostatistics, Epidemiology, & Informatics
Computational Genetics Laboratory
D 201 Richards Bldg., 3700 Hamilton Walk, Philadelphia, PA 19104
phone: 215-573-4408; email: manduchi@pennmedicine.upenn.edu


Experience
Education
Research interests
Publications


Experience


Education


Research interests

I am a Bioinformatics Scientist, with extensive experience in analysis and management of high-throughput biological data, including development of methods, algorithms, computational tools, functional genomics databases and web resources. I am a former member of CBIL (UPenn), where I have been involved in several projects including: Beta Cell Genomics (Project Manager), RAD and GUS, PaGE, and Significance Testing for Direct  Identity-by-descent mapping (STeDI). As part of CBIL, I have collaborated with many investigators both within and outside of the University of Pennylvania, including a long-term collaboration with Professor Peter Davies' group at UPenn on analyses of high-throughput datasets relative to Cardiovascular Biology. I have also collaborated with Dr. Greg Grant's bioinformatics group at ITMAT (UPenn) on methods and code to pre-process and analyze RNA-Seq data. From 2015 to 2019 I have spent half of my time at the Center for Spatial and Functional Genomics at The Children's Hospital of Philadelphia (CHOP), led by Professors Struan Grant and Andrew Wells, where I have worked on integrated analyses of various types of functional genomics data, including high-throughput Chromosome Conformation Capture data. As of 2015 I am part of Professor Jason Moore's Computational Genetics Laboratory in the Institute for Biomedical Informatics at UPenn where I work on approaches for identifying genetic and genomic biomarkers associated with human health and disease, embracing the complexity of the genotype-to-phenotype mapping relationship due to phenomena such as epistasis.


Publications

Computational Biology/Bioinformatics

Click here for selected list

Mathematics