Rachel Goldfeder, PhD

I am currently a Computational Scientist at The Jackson Laboratory for Genomic Medicine, where I study the human genome and epigenome in search of patterns that are indicators of cancer. Our goal is to identify genomic and epigenomic differences between healthy tissue and tumor tissue. Once we’ve identified these key differences, doctors will be able to screen future patients for these patterns via simple, non-invasive techniques like a blood draw (liquid biopsy) to help detect and treat cancer earlier.

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.