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.
- BREAKING NEWS: The 2022 #NobelPrize in Physiology or Medicine has been awarded to Svante Pääbo “for his discoveries concerning the genomes of extinct hominins and human evolution.” t.co/fGFYYnCO6J
- This algorithm could help identify duplication- and deletion-intolerant genes within large segments of DNA, including several autism-linked copy number variants. By @PeterNHess @RyanLCollins13 @TalkowskiLab @dhledbetter @clesemartin @redsquirrel001 t.co/GRnSETK2Zd
- Human geneticist know its been a nightmare to call reliable #CNVs from #exome. Fortunately @TalkowskiLab helps calling CNVs on our @broadinstitute-sequenced samples. Image our excitement with the new benchmarked algorithm #GATK-gCNV t.co/wjuC4nk7zp #bioRxiv! Awesome!
- We are excited to share our latest preprint, a collaborative effort with our exceptional @broadinstitute Data Sciences Platform partners, to provide a method for rare copy number variant (CNV) detection in exome sequencing (ES) data: GATK-gCNV! t.co/aq9rRZ2AZC (1/8)