Posey JE, O’Donnell-Luria AH, Chong JX, … Baxter S, et al, Lupski JR. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 Apr;21(4):798-812.
Chanock S, Cline M, Liao RG, … Baxter S, et al. BRCA challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLoS Genet. 2018 Dec 26;14(12):e1007752.
Arachchi H, Wojcik MH, Weisburd B, … Baxter S, et al. matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat. 2018 Dec;39(12):1827-1834.
Samantha Baxter, M.S.
Samantha Baxter is a senior clinical genomics specialist and genetic counselor in the Program in Medical and Population Genetics Translational Genomics Group at the Broad Institute of MIT and Harvard. She works under the direction of Heidi Rehm leading the variant curation team, which curates and classifies variants found in Mendelian disease genes. As part of Baxter’s ongoing research, she uses various curation processes to estimate the prevalence of rare disease in the global population. Baxter’s work has a strong focus on data modeling and scalable processes for clinical and genomic data sharing, across multiple efforts, including the Broad Institute’s Center for Mendelian Genomics, gnomAD, BRCA Exchange, and the Clinical Genome Resource.