Project Notes
- Ben Weisburd
11-12-2023
Defining genome-wide TR catalogs
7-31-2023
How adjacent repeats in ExpansionHunter catalogs affect genotype quality
6-1-2022
LIRICAL vs Exomiser phenotype-based prioritization in 75 rare disease cases
5-4-2022
Benchmarking LIRICAL for phenotype-based prioritization in 75 rare disease cases
1-21-2022
STRs: Diagnosing CANVAS / RFC1 expansions using WGS data