Publication List
For consistency, I publish under my maiden name, Rachel L Goldfeder.
2020
Ngan CY, Wong CH, Tjong H, Wang W, Goldfeder RL, et al . Chromatin interaction analyses elucidate the roles of PRC2-bound silencers in mouse development. Nature Genetics. 2020.
2019
Vitiello GA, … Goldfeder RL, et al . Differential immune profiles distinguish the mutational subtypes of gastrointestinal stromal tumor. The Journal of Clinical Investigation. 2019.
Curnin C*, Goldfeder RL*, Marwaha S, Bonner D, Waggot D, Undiagnosed Diseases Network, Wheeler MT, Ashley EA. . Machine learning-based detection of insertions and deletions in the human genome. bioRxiv. 2019.
2017
Goldfeder RL, Wall D, Khoury M, Ioannidis J, Ashley EA. . Human Genome Sequencing at Population Scale: A Primer on –omics Technologies. American Journal of Epidemiology. 2017.
Harper AR, Parikh VN, Goldfeder RL, Caleshu C, Ashley EA. Delivering clinical grade sequencing and genetic test interpretation for cardiovascular medicine. Circulation: Genomic and Precision Medicine. 2017.
McConnell MV, Shcherbina A, Pavlovic A, Homburger JR, Goldfeder RL, et al. Feasibility of Obtaining Measures of Lifestyle From a Smartphone App: The MyHeart Counts Cardiovascular Health Study. JAMA Cardiology. 2017.
Yu K, Hart SN, Goldfeder RL, Zhang QC, Parker SCJ, Snyder M. . Harnessing big data for precision medicine: infrastructures and applications. Pacific Symposium on Biocomputing. 2017.
2016
Goldfeder RL, Ashley EA. A precision metric for clinical genome sequencing. bioRxiv. 2016.
Goldfeder RL*, Priest JR*, Zook JM*, Grove M, Waggott D, Wheeler M, Salit M, Ashley EA. Medical Implications of Technical Accuracy in Genome Sequencing. Genome Medicine. 2016.
Altman RB, Prabhu S, Sidow A, Zook JM, Goldfeder R, et al. A research roadmap for next-generation sequencing informatics. Science Translational Medicine. 2016.
Alberti C, Daniels N, Hernaez M, Voges J, Goldfeder RL, et al. An Evaluation Framework for Lossy Compression of Genome Sequencing Quality Values. Data Compression Conference Proceedings. 2016.
Ochoa I, Hernaez M, Goldfeder RL, Weissman T, Ashley EA. Denoising of Quality Scores for Boosted Inference and Reduced Storage. Data Compression Conference Proceedings. 2016.
Ochoa I, Hernaez M, Goldfeder RL, Weissman T, Ashley EA. Effect of Lossy Compression of Quality Scores on Variant Calling. Briefings in Bioinformatics. 2016.
2015
McManus K*, Doughty EK*, Goldfeder RL*, Haynes WA*, Tatum J*. Mining Twitter Data to Improve Detection of Schizophrenia. Proceedings of the AMIA CRI Summit. 2015.
2014
Dewey FE, Grove ME, Pan C, …, Goldfeder RL, et al. Clinical Interpretation and Implications of Whole-Genome Sequencing. The Journal of the American Medical Association. 2014.
2013
Bonnycastle LL, Chines PS, Hara T, …, Goldfeder RL, et al. Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation. Diabetes. 2013.
2012
2011
Goldfeder RL*, Parker SCJ*, Ajay SS, Ozel Abaan H, Margulies EH. A Bioinformatics Approach for Determining Sample Identity from Different Lanes of High-Throughput Sequencing Data. PLoS One. 2011.