Rachel Goldfeder, PhD

I am currently a Computational Scientist at The Jackson Laboratory for Genomic Medicine. My main focus here is creating new computational pipelines to analyze epigenomic patterns (with a focus on 5hmC) from low coverage oxidative bisulfite sequencing of tumor, normal, and cell-free DNA samples. The goal of this work is to further characterize epigenomic patterns in cancer to enable liquid biopsy diagnostics.

I believe next-generation sequencing and personal genomes will shape the future of medicine and I am excited by projects that help make this a reality. In my previous roles at Washington University in St. Louis and at NHGRI, my projects included identifying disease-causing genetic variants from analyses of gene panels and exome sequencing data, and developing quality control methods for Illumina sequencing data.

I completed my doctoral work in Biomedical Informatics in Euan Ashley's lab at Stanford University. My thesis projects focused on evaluating and improving clinical genome sequencing (e.g. methods for INDEL detection, variant prioritization schemes, developing novel quality coverage metrics), with the long term goal of enabling the common use of genomic information in patient care.