Ryan is a Ph.D candidate in the Bioinformatics and Integrative Genomics (BIG) program at Harvard Medical School, and is a member of the Talkowski lab at Massachusetts General Hospital and The Broad Institute. He is supported by an award from the Graduate Research Fellowship Program (GRFP) through the National Science Foundation (NSF).
His research focuses on the structure of the human genome, and how changes to genome structure contribute to human diversity and disease. He has led and contributed to numerous large-scale sequencing studies, such as the Genome Aggregation Database (gnomAD), one of the most widely adopted reference catalogs of human genetic variation in the world.
- Genetic mechanisms for tissue-specific essential genes t.co/2VLdNJwggq #biorxiv_genetic
- Online @nature : Genome-wide enhancer maps link risk variants to disease genes t.co/MpajUqVIJa t.co/BOYhZpomCJ
- This pre-print details DeepTrio, which was released in DeepVariant v1.1. When family data is available, DeepTrio is more accurate than DeepVariant, especially at lower sequence coverages. This details runtime and accuracy for PacBio HiFi and Illumina. t.co/Cd2ZqLD81K
- Come join us @CHUVLausanne ! Open position for a Post-doc/Senior bioinformatician to work on exciting projects in Genomics & Translational Medicine t.co/NZSfL28d9b