Interpreting transcript diversity requires moving beyond ‘known’ versus ‘novel’ and towards a multidimensional framework based on technical credibility, contextual prevalence, reproducibility, molecul...

30 November - 2 December 2026 To foster international participation, this course will be held online

30 November - 2 December 2026 To foster international participation, this course will be held online

Sniffles2 is an open-source software for reliable detection of structural variants (50 bp and upward) from long-read sequencing. Sniffles2 is able to call variants over a wide variant allele fraction ...

30 November - 2 December 2026 To foster international participation, this course will be held online

23-27 February 2026 To foster international participation, this course will be held online

Register for a guest lecture on “Pan-genomic Advances for Fighting Reference Bias” with Ben Langmead, Professor of Computer Science at Johns Ho...

1-3 December 2025 To foster international participation, this course will be held online

Learn about the major accomplishments of the consortium’s first five years and the frontiers in genomic medicine that researchers will tackle next.

The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

1-3 December 2025 To foster international participation, this course will be held online

Despite significant advances in genomic sequencing, the resolution of many rare disease cases is still hindered by variant detection limitations. Short reads struggle in homologous regions, and long r...

The All of Us Research Program (AoU) is a national biobank seeking to enroll one million individuals in the United States to link genomic and biomedical data, including short- and long-read whole-geno...