Jacob Kitzman
Assistant Professor
Human Genetics
Medicine
PhD in Genome Sciences, Univ. of Washington, 2013
M.Eng. in Computer Science, MIT, 2006
B.S. in Computer Science, MIT, 2004
Projects:
High-throughput analysis of variant functional effects
Research Area(s)
Genetics / Genomics / other OMICS
Publications
- Erratum: Haplotype-resolved genome sequencing of a Gujarati Indian individual (Nature Biotechnology (2011) 29 (59-63))
- SUN-245 Heterozygous GH1 p.R209H Variant within a Large Pedigree May Mimic a Growth Hormone Insensitivity Pattern
- MON-472 Potentially Pathogenic Variants Identified in Patients with Hypopituitarism by Molecular Inversion Probe Sequencing (MIPS), a New Molecular Approach for Low Cost Gene Panel Sequencing
Grants
- Co-investigator of: Investigation of Lynch Syndrome phenotypes through interactions between germline and somatic genetic variation
- Principal investigator of: Clonal Hematopoiesis of Indeterminate Potential, Mosaic Chromosomal Alternations and Cardiovascular Disease in HIV-CHIPS/MCA VACS study
- Co-investigator of: Genetic and molecular studies of spontaneous coronary artery dissection