University of California-San Diego · Mathematics & StatisticsCenter for Repeat Variant Analysis
Melissa Gymrek · La Jolla, California
Research Focus
Dr. Melissa Gymrek's lab focuses on enhancing the analysis of genetic variants related to Mendelian diseases, especially those in repetitive regions of the genome. The lab aims to develop new methods for accurate profiling of complex repeat variants to improve clinical variant discovery. By making these repeat analyses a standard part of genetic testing, they hope to provide better diagnostics for various genetic disorders.
whole genome sequencingMendelian diseasesgenetic variantsrepeat variantsbioinformaticsneurodegenerative disorderspathogenic mutationsgenetic testingvariant calling pipelines
Research Aims
3AIM 01Develop novel methods for profiling repeat variants from long-read sequencing.
AIM 02Enhance existing methods for analyzing complex genetic variants from short reads.
AIM 03Establish a framework for predicting the pathogenicity of new repeat mutations.
Skills the Lab Values
bioinformaticslong-read sequencingcomputational analysisvariant prioritizationdata miningstatistical geneticsalgorithm developmentgenetic variant analysisshort tandem repeat analysis
Output against the department
Publications130bottom 24% of dept.99th of 131
this lab
most publishedleast published
Citations11ktop 35% of dept.46th of 131
this lab
most citedleast cited
Career totals from OpenAlex, compared against labs that share a department. A department spans everything from one paper to tens of thousands, so bar heights are on a log scale — otherwise the largest lab would flatten every other bar to a line.