Michael Ronemus

Michael Ronemus is a Research Assistant Professor at Cold Spring Harbor Laboratory, affiliated with the Wigler Laboratory. He holds a Ph.D. from Yale University (1998). His research focuses on uncovering the genetic basis of sporadic diseases like autism, congenital heart defects, and early-onset cancers using novel next-generation sequencing techniques. Collaborating with clinical partners, his work aims to translate these technologies into actionable medical tests.

Education: Ph.D. in Genetics, Yale University (1998).

Research Interests: Development of wet lab and bioinformatics tools for detecting rare mutations, next-gen sequencing applications in genetic disease analysis, and translational genomic medicine. Key methods include the SMASH and Scalpel algorithms for copy number variant and indel detection, as well as bisulfite sequencing for epigenetic analysis. His studies emphasize de novo mutation contributions to neurodevelopmental disorders and congenital anomalies.

Recent work highlights genome-transcriptome correlations in cancer, sibling concordance in autism genetics, and de novo mutation rates in high-risk autism families. His publications span journals like Science, Nature, and Genome Research.

Collaborations: Active partnerships with clinical institutions to advance diagnostic tools for genetic conditions. Techniques developed in his lab are applied across autism, congenital heart disease, and oncology research.

Labs/Teams: Core member of the Wigler Laboratory, specializing in genomic analysis and bioinformatics-driven medical research.